Product Details

SNP ID

rs112590269

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:61873202 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACAGATGTTAATGTTTTACCTTAC[A/T]AATGAATTCAATGTCTTCTCTTTCA

Phenotype

MIM: 605142

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CCT4 PubMed Links

Gene Details

Gene

CCT4

Gene Name

chaperonin containing TCP1 subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256721.1	1173	Missense Mutation	AGT,TGT	S307C	NP_001243650.1
NM_006430.3	1173	Missense Mutation	AGT,TGT	S337C	NP_006421.2

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