Product Details

SNP ID

rs111699375

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:46735146 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTGCCATGCTTTGCAGAATGCTT[C/T]GAATCTTGAGACTGCTTAGTGCATT

Phenotype

MIM: 609811

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COX7B2 PubMed Links

Gene Details

Gene

COX7B2

Gene Name

cytochrome c oxidase subunit 7B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_130902.2	116	Missense Mutation	CAA,CGA	Q16R	NP_570972.2
XM_005248056.4	116	Missense Mutation	CAA,CGA	Q16R	XP_005248113.1
XM_011513630.2	116	Missense Mutation	CAA,CGA	Q16R	XP_011511932.1
XM_011513631.2	116	Missense Mutation	CAA,CGA	Q16R	XP_011511933.1
XM_011513632.2	116	Missense Mutation	CAA,CGA	Q16R	XP_011511934.1
XM_011513633.2	116	Missense Mutation	CAA,CGA	Q16R	XP_011511935.1
XM_011513634.2	116	Missense Mutation	CAA,CGA	Q16R	XP_011511936.1
XM_011513635.2	116	Missense Mutation	CAA,CGA	Q16R	XP_011511937.1
XM_011513636.1	116	Missense Mutation	CAA,CGA	Q16R	XP_011511938.1
XM_011513637.2	116	Missense Mutation	CAA,CGA	Q16R	XP_011511939.1
XM_011513638.2	116	Missense Mutation	CAA,CGA	Q16R	XP_011511940.1

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