Product Details

SNP ID

rs147223483

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31640025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGCCCTTCTGCACAGAACTCAAC[C/G]CTGAGGAGCAGGCCCTGAAGGAGAA

Phenotype

MIM: 607976

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

COX4I2 PubMed Links

Gene Details

Gene

COX4I2

Gene Name

cytochrome c oxidase subunit 4I2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032609.2	250	Missense Mutation	CCT,GCT	P59A	NP_115998.2
XM_005260579.4	250	Missense Mutation	CCT,GCT	P64A	XP_005260636.1
XM_005260580.4	250	Missense Mutation	CCT,GCT	P64A	XP_005260637.1
XM_005260581.3	250	Missense Mutation	CCT,GCT	P59A	XP_005260638.1

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