Product Details

SNP ID
rs143650705
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:55955808 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGCAGGACACAGTCAGCTCAAA[G/T]GCATCCCCCTCACCGGACGGCACAG
Phenotype
MIM: 125855 MIM: 155550
Polymorphism
G/T, 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 1452 Silent Mutation GCA,GCC A423A NP_001186982.1
NM_001200054.1 1452 Silent Mutation GCA,GCC A509A NP_001186983.1
NM_001320121.1 1452 Silent Mutation GCA,GCC A467A NP_001307050.1
NM_001320122.1 1452 Silent Mutation GCA,GCC A467A NP_001307051.1
NM_006928.4 1452 Silent Mutation GCA,GCC A509A NP_008859.1
XM_006719569.1 1452 Silent Mutation GCA,GCC A509A XP_006719632.1
XM_011538685.1 1452 Silent Mutation GCA,GCC A509A XP_011536987.1

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