Product Details

SNP ID

rs17343090

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:167919989 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGGTAGGCTTACCTCCAAATAC[A/G]AAAAAGCTGAGAGGCTCCTGCTGCC

Phenotype

MIM: 605205 MIM: 614737

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADCY10 PubMed Links

Gene Details

Gene

ADCY10

Gene Name

adenylate cyclase 10, soluble

There are no transcripts associated with this gene.

Gene

MPC2

Gene Name

mitochondrial pyruvate carrier 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143674.3	525	Missense Mutation	CGT,TGT	R113C	NP_001137146.1
NM_015415.3	525	Missense Mutation	CGT,TGT	R113C	NP_056230.1
XM_006711266.3	525	Missense Mutation	CGT,TGT	R113C	XP_006711329.1

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