Product Details

SNP ID
rs144261554
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:34932429 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCCAAGACGAGCTCTTCCTTTTA[C/T]ACTGTTCTTATATGTAACAAGAGCT
Phenotype
MIM: 610730
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCT6B PubMed Links

Gene Details

Gene
CCT6B
Gene Name
chaperonin containing TCP1 subunit 6B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193529.2 1266 Missense Mutation ATA,GTA I392V NP_001180458.1
NM_001193530.1 1266 Missense Mutation ATA,GTA I384V NP_001180459.1
NM_006584.3 1266 Missense Mutation ATA,GTA I429V NP_006575.2
XM_011524203.2 1266 Missense Mutation ATA,GTA I287V XP_011522505.1
XM_017024023.1 1266 Missense Mutation ATA,GTA I363V XP_016879512.1
XM_017024024.1 1266 Missense Mutation ATA,GTA I250V XP_016879513.1

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