Product Details

SNP ID
rs201373220
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:55954323 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCTATGTGGCAACTGGGGTACG[C/G]AGAAGTCTTGCTTCATAAGTCTGCG
Phenotype
MIM: 125855 MIM: 155550
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DGKA PubMed Links

Gene Details

Gene
DGKA
Gene Name
diacylglycerol kinase alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001345.4 1802 Intron NP_001336.2
NM_201444.2 1802 Intron NP_958852.1
NM_201445.1 1802 Intron NP_958853.1
NM_201554.1 1802 Intron NP_963848.1
XM_005268688.2 1802 Intron XP_005268745.1
XM_005268689.2 1802 Intron XP_005268746.1
XM_005268690.2 1802 Intron XP_005268747.1
XM_011537991.2 1802 Intron XP_011536293.1
XM_011537993.2 1802 Intron XP_011536295.1
XM_011537995.2 1802 Intron XP_011536297.1
XM_017018900.1 1802 Intron XP_016874389.1
XM_017018901.1 1802 Intron XP_016874390.1
XM_017018902.1 1802 Intron XP_016874391.1
XM_017018903.1 1802 Intron XP_016874392.1
XM_017018904.1 1802 Intron XP_016874393.1
XM_017018905.1 1802 Intron XP_016874394.1
XM_017018906.1 1802 Intron XP_016874395.1
XM_017018907.1 1802 Intron XP_016874396.1
XM_017018908.1 1802 Intron XP_016874397.1
XM_017018909.1 1802 Intron XP_016874398.1
Gene
PMEL
Gene Name
premelanosome protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001200053.1 1802 Missense Mutation TCC,TGC S540C NP_001186982.1
NM_001200054.1 1802 Missense Mutation TCC,TGC S633C NP_001186983.1
NM_001320121.1 1802 Missense Mutation TCC,TGC S591C NP_001307050.1
NM_001320122.1 1802 Missense Mutation TCC,TGC S584C NP_001307051.1
NM_006928.4 1802 Missense Mutation TCC,TGC S626C NP_008859.1
XM_006719569.1 1802 Missense Mutation TCC,TGC S626C XP_006719632.1
XM_011538685.1 1802 Missense Mutation TCC,TGC S633C XP_011536987.1

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