Product Details

SNP ID
hCV897930
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:19350081 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGCTGTATAAACAGAAAATTATT[A/C]GTGGTTTCTGTCACTTGTGTGATGG
Phenotype
MIM: 300820 MIM: 300502
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MAP3K15 PubMed Links

Gene Details

Gene
MAP3K15
Gene Name
mitogen-activated protein kinase kinase kinase 15
There are no transcripts associated with this gene.

Gene
PDHA1
Gene Name
pyruvate dehydrogenase (lipoamide) alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000284.3 521 Missense Mutation AGT,CGT S88R NP_000275.1
NM_001173454.1 521 Missense Mutation AGT,CGT S126R NP_001166925.1
NM_001173455.1 521 Missense Mutation AGT,CGT S88R NP_001166926.1
NM_001173456.1 521 Missense Mutation AGT,CGT S88R NP_001166927.1

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