Product Details

SNP ID

rs11832131

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55956052 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAAGGTGTGCTTCCACTGACCAGCC[A/C]TAGGTAGCACACAGCTGCCTCCATC

Phenotype

MIM: 125855 MIM: 155550

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DGKA PubMed Links

Gene Details

Gene

DGKA

Gene Name

diacylglycerol kinase alpha

There are no transcripts associated with this gene.

Gene

PMEL

Gene Name

premelanosome protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001200053.1		Intron			NP_001186982.1
NM_001200054.1		Intron			NP_001186983.1
NM_001320121.1		Intron			NP_001307050.1
NM_001320122.1		Intron			NP_001307051.1
NM_006928.4		Intron			NP_008859.1
XM_006719569.1		Intron			XP_006719632.1
XM_011538685.1		Intron			XP_011536987.1

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