Product Details

SNP ID

rs55744630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:19361335 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTATACAAACTGTTTTGAGGCTC[C/T]TACCGTAGTCGAAGGTATCTTAGAT

Phenotype

MIM: 300820 MIM: 300502

Polymorphism

C/T, Transition 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	3114	Intron			NP_001001671.3
XM_011545507.2	3114	Intron			XP_011543809.2
XM_011545508.2	3114	Intron			XP_011543810.2
XM_011545510.2	3114	Intron			XP_011543812.1
XM_011545511.2	3114	Intron			XP_011543813.1
XM_017029511.1	3114	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	3114	UTR 3			NP_000275.1
NM_001173454.1	3114	UTR 3			NP_001166925.1
NM_001173455.1	3114	UTR 3			NP_001166926.1
NM_001173456.1	3114	UTR 3			NP_001166927.1
XM_017029574.1	3114	Intron			XP_016885063.1

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