Gene: OCA2 ENSG00000104044

Description

OCA2 melanosomal transmembrane protein [Source:HGNC Symbol;Acc:HGNC:8101]

Synonyms

EYCL, BEY1, EYCL2, BEY2, P, BEY, D15S12, EYCL3

Location

Chromosome 15: 27,754,875-28,099,358 reverse strand.

GRCh38:CM000677.2

View alleles of this gene on alternate assemblies

About this gene

This gene has 4 transcripts (splice variants), 1 gene allele, 67 orthologues, is a member of 1 Ensembl protein family and is associated with 7 phenotypes.

Transcripts

Show transcript tableHide transcript table

Name	Transcript ID	bp	Protein	Translation ID	Biotype	CCDS	UniProt	RefSeq	Flags
OCA2-202	ENST00000354638.7	3186	838aa	ENSP00000346659	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	CCDS10020	Q04671	NM_000275 NP_000266	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic<p>PRINCIPAL3 - APPRIS candidate principal isoform (earliest CCDS).</p><p><a class="popup" href="/Homo_sapiens/Help/Glossary?id=521">APPRIS</a> is a system to annotate alternatively spliced transcripts based on a range of computational methods.</p>APPRIS P3
OCA2-201	ENST00000353809.9	3068	814aa	ENSP00000261276	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	CCDS73701	Q04671	NM_001300984 NP_001287913	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic<p>ALTERNATIVE2 - APPRIS candidate principal isoform that appears to be conserved in fewer than three tested non-primate species.</p><p><a class="popup" href="/Homo_sapiens/Help/Glossary?id=521">APPRIS</a> is a system to annotate alternatively spliced transcripts based on a range of computational methods.</p>APPRIS ALT2
OCA2-203	ENST00000431101.1	996	264aa	ENSP00000415431	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	C9JDV3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete<p>Transcript Support Level 3, when transcripts are supported by a single EST only.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:3
OCA2-204	ENST00000445578.5	750	218aa	ENSP00000414425	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	-	C9JLG9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete<p>Transcript Support Level 3, when transcripts are supported by a single EST only.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:3

Gene: OCA2 ENSG00000104044

Summary

Gene-based displays

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Gene: OCA2 ENSG00000104044

Summary

Gene-based displays

About Us

Get help

Our sister sites

Follow us