Product Details

SNP ID

rs15943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:19361522 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCAATTGTCTTTGCATCAGCTCCTT[C/G]CAGCCGCAACCAGTCTATAAGCTCT

Phenotype

MIM: 300820 MIM: 300502

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MAP3K15 PubMed Links

Gene Details

Gene

MAP3K15

Gene Name

mitogen-activated protein kinase kinase kinase 15

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001671.3	3301	Missense Mutation	CAA,GAA	Q1251E	NP_001001671.3
XM_011545507.2	3301	Missense Mutation	CAA,GAA	Q1262E	XP_011543809.2
XM_011545508.2	3301	Missense Mutation	CAA,GAA	Q1233E	XP_011543810.2
XM_011545510.2	3301	Missense Mutation	CAA,GAA	Q809E	XP_011543812.1
XM_011545511.2	3301	Missense Mutation	CAA,GAA	Q686E	XP_011543813.1
XM_017029511.1	3301	Intron			XP_016885000.1

Gene

PDHA1

Gene Name

pyruvate dehydrogenase (lipoamide) alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000284.3	3301	UTR 3			NP_000275.1
NM_001173454.1	3301	UTR 3			NP_001166925.1
NM_001173455.1	3301	UTR 3			NP_001166926.1
NM_001173456.1	3301	UTR 3			NP_001166927.1
XM_017029574.1	3301	Intron			XP_016885063.1

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