Product Details

SNP ID

rs2956111

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:34916384 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGAGGCCGCAAATGCAATCAGGC[A/G]GCGCTGAGGGCAGCCCGGGGGCGGG

Phenotype

MIM: 612491 MIM: 608769

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

APIP PubMed Links

Additional Information

For this assay, SNP(s) [rs113073242] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

APIP

Gene Name

APAF1 interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015957.3	28	UTR 5			NP_057041.2
XM_011520154.2	28	Intron			XP_011518456.1
XM_017017875.1	28	Intron			XP_016873364.1

Gene

PDHX

Gene Name

pyruvate dehydrogenase complex component X

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135024.1	28	Missense Mutation	AGC,GGC	S5G	NP_001128496.1
NM_001166158.1	28	UTR 5			NP_001159630.1
NM_003477.2	28	UTR 5			NP_003468.2
XM_011520390.1	28	Intron			XP_011518692.1

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