Product Details

SNP ID

rs77145008

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55954483 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGCTTCCTCCCCTTCTCCTCACC[C/T]CCAGGGTTTACCCTCTCTTATTTCT

Phenotype

MIM: 125855 MIM: 155550

Polymorphism

C/T, Transition 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		Intron			NP_001336.2
NM_201444.2		Intron			NP_958852.1
NM_201445.1		Intron			NP_958853.1
NM_201554.1		Intron			NP_963848.1
XM_005268688.2		Intron			XP_005268745.1
XM_005268689.2		Intron			XP_005268746.1
XM_005268690.2		Intron			XP_005268747.1
XM_011537991.2		Intron			XP_011536293.1
XM_011537993.2		Intron			XP_011536295.1
XM_011537995.2		Intron			XP_011536297.1
XM_017018900.1		Intron			XP_016874389.1
XM_017018901.1		Intron			XP_016874390.1
XM_017018902.1		Intron			XP_016874391.1
XM_017018903.1		Intron			XP_016874392.1
XM_017018904.1		Intron			XP_016874393.1
XM_017018905.1		Intron			XP_016874394.1
XM_017018906.1		Intron			XP_016874395.1
XM_017018907.1		Intron			XP_016874396.1
XM_017018908.1		Intron			XP_016874397.1
XM_017018909.1		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		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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