Product Details

SNP ID
rs146965707
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:55955611 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGTAGCACAGGCTGGCACAGCC[A/G]CTGGGCAGGGGGCTGGCACCCTGGC
Phenotype
MIM: 125855 MIM: 155550
Polymorphism
A/G, Transition 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 1540 Missense Mutation CGG,TGG R453W NP_001186982.1
NM_001200054.1 1540 Missense Mutation CGG,TGG R539W NP_001186983.1
NM_001320121.1 1540 Missense Mutation CGG,TGG R497W NP_001307050.1
NM_001320122.1 1540 Missense Mutation CGG,TGG R497W NP_001307051.1
NM_006928.4 1540 Missense Mutation CGG,TGG R539W NP_008859.1
XM_006719569.1 1540 Missense Mutation CGG,TGG R539W XP_006719632.1
XM_011538685.1 1540 Missense Mutation CGG,TGG R539W XP_011536987.1

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