Product Details

SNP ID

rs199805585

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:36968938 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAAGCATGATCCTGATGACACCC[C/G]GCGGAAAAGCAGGCTGGAGCCTCGG

Phenotype

MIM: 610449

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

MTCH1 PubMed Links

Additional Information

For this assay, SNP(s) [rs7772210] 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

MTCH1

Gene Name

mitochondrial carrier 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271641.1	1513	Missense Mutation	CGG,GGG	R379G	NP_001258570.1
NM_014341.2	1513	Missense Mutation	CGG,GGG	R362G	NP_055156.1
XM_005248978.1	1513	UTR 3			XP_005249035.1
XM_005248979.1	1513	Intron			XP_005249036.1
XM_011514450.1	1513	Intron			XP_011512752.1
XM_017010642.1	1513	UTR 3			XP_016866131.1
XM_017010643.1	1513	Missense Mutation	CGG,GGG	R223G	XP_016866132.1

Gene

PI16

Gene Name

peptidase inhibitor 16

There are no transcripts associated with this gene.

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