Product Details

SNP ID
rs147082978
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:34931010 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACATGCTCAGCCTGAACTTTTAC[C/T]AATGTTTCCTGTGGGTCATAACCAG
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 1370 Silent Mutation TTA,TTG L426L NP_001180458.1
NM_001193530.1 1370 Silent Mutation TTA,TTG L418L NP_001180459.1
NM_006584.3 1370 Silent Mutation TTA,TTG L463L NP_006575.2
XM_011524203.2 1370 Silent Mutation TTA,TTG L321L XP_011522505.1
XM_017024023.1 1370 Silent Mutation TTA,TTG L397L XP_016879512.1
XM_017024024.1 1370 Silent Mutation TTA,TTG L284L XP_016879513.1

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