Basic Information

Symbol
SLC45A2
RNA class
mRNA
Alias
Solute Carrier Family 45 Member 2 OCA4 MATP Membrane-Associated Transporter Protein Oculocutaneous Albinism Type 4 Antigen In Melanoma 1 Melanoma Antigen AIM1 Protein AIM-1 AIM-1 AIM1 Solute Carrier Family 45, Member 2 Membrane Associated Transporter Underwhite SHEP5 1A1
Location (GRCh38)
5:33944623-33984693
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_016180.5
Sequence length
1728.0 nt
GC content
0.5289

Transcripts

ID Sequence Length GC content
NM_001012509.4 NCBI
AUCUCUGUUGGUUGCUCGGCCAGGCUCCACGUCAAAUCCAGUUUGAAAC… 2775 nt 0.4832
NM_001297417.4 NCBI
AUCUCUGUUGGUUGCUCGGCCAGGCUCCACGUCAAAUCCAGUUUGAAAC… 1122 nt 0.5125
NM_016180.5 NCBI
AUCUCUGUUGGUUGCUCGGCCAGGCUCCACGUCAAAUCCAGUUUGAAAC… 1728 nt 0.5289
Summary

This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Forensic Context

No relevant information is available at the moment.