Product Details

SNP ID
rs1042452
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:19360381 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTGTACTTTTTTTGAGACAGGGT[C/T]GGGCTCTGTTGCCCAGGCTGGAGTG
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 2160 UTR 3 NP_001001671.3
XM_011545507.2 2160 UTR 3 XP_011543809.2
XM_011545508.2 2160 UTR 3 XP_011543810.2
XM_011545510.2 2160 UTR 3 XP_011543812.1
XM_011545511.2 2160 UTR 3 XP_011543813.1
XM_017029511.1 2160 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 2160 UTR 3 NP_000275.1
NM_001173454.1 2160 UTR 3 NP_001166925.1
NM_001173455.1 2160 UTR 3 NP_001166926.1
NM_001173456.1 2160 UTR 3 NP_001166927.1
XM_017029574.1 2160 Intron XP_016885063.1

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