Product Details

SNP ID

rs112996306

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18045163 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTTCAGCACGTGGACACGGGGA[A/G]CTCTTACCTTTGTGGGTACTTGAAG

Phenotype

MIM: 608918

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ATPAF2 PubMed Links

Additional Information

For this assay, SNP(s) [rs2955355] are located under a probe 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

ATPAF2

Gene Name

ATP synthase mitochondrial F1 complex assembly factor 2

There are no transcripts associated with this gene.

Gene

GID4

Gene Name

GID complex subunit 4 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024052.4	510	Missense Mutation	AAC,AGC	N152S	NP_076957.3
XM_005256799.4	510	Missense Mutation	AAC,AGC	N152S	XP_005256856.1
XM_005256800.1	510	Missense Mutation	AAC,AGC	N152S	XP_005256857.1
XM_011524008.1	510	Missense Mutation	AAC,AGC	N152S	XP_011522310.1

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