Product Details

SNP ID

rs143080465

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:156299054 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGCTCGCGTGAGTTCACAGAGC[A/G]CAGCACAGGCCATGCTGCTCTGGCT

Phenotype

MIM: 600114 MIM: 610962 MIM: 615531

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCT3 PubMed Links

Gene Details

Gene

CCT3

Gene Name

chaperonin containing TCP1 subunit 3

There are no transcripts associated with this gene.

Gene

GLMP

Gene Name

glycosylated lysosomal membrane protein

There are no transcripts associated with this gene.

Gene

SMG5

Gene Name

SMG5, nonsense mediated mRNA decay factor

There are no transcripts associated with this gene.

Gene

TMEM79

Gene Name

transmembrane protein 79

There are no transcripts associated with this gene.

Gene

VHLL

Gene Name

von Hippel-Lindau tumor suppressor like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001004319.2	584	Missense Mutation	CGC,TGC	R46C	NP_001004319.1

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