Product Details

SNP ID
rs138648441
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:55956178 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGGGGGACTTGTCTCTTCACCA[A/G]CCTTAAGGTGGCTGTACCATCCAGC
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 1321 Silent Mutation CTG,TTG L380L NP_001186982.1
NM_001200054.1 1321 Silent Mutation CTG,TTG L466L NP_001186983.1
NM_001320121.1 1321 Silent Mutation CTG,TTG L424L NP_001307050.1
NM_001320122.1 1321 Silent Mutation CTG,TTG L424L NP_001307051.1
NM_006928.4 1321 Silent Mutation CTG,TTG L466L NP_008859.1
XM_006719569.1 1321 Silent Mutation CTG,TTG L466L XP_006719632.1
XM_011538685.1 1321 Silent Mutation CTG,TTG L466L XP_011536987.1

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