Product Details

SNP ID
rs11554111
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:19351326 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGCCGGCATCAACCCCACAGAC[C/T]ATCTCATCACAGCCTACCGGGCTCA
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
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_000284.3 596 Missense Mutation CAT,TAT H113Y NP_000275.1
NM_001173454.1 596 Missense Mutation CAT,TAT H151Y NP_001166925.1
NM_001173455.1 596 Missense Mutation CAT,TAT H120Y NP_001166926.1
NM_001173456.1 596 Missense Mutation CAT,TAT H113Y NP_001166927.1
XM_017029574.1 596 Missense Mutation CAT,TAT H151Y XP_016885063.1

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