Product Details

SNP ID
rs140963713
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:72293423 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGGTGCCCGGATGTCCAGTCTGC[A/G]AGTCTTGCTGTCCTTGTCGATGATC
Phenotype
MIM: 616254
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CLPB PubMed Links

Gene Details

Gene
CLPB
Gene Name
ClpB homolog, mitochondrial AAA ATPase chaperonin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258392.2 2278 Missense Mutation CGC,TGC R660C NP_001245321.1
NM_001258393.2 2278 Missense Mutation CGC,TGC R631C NP_001245322.1
NM_001258394.2 2278 Missense Mutation CGC,TGC R645C NP_001245323.1
NM_030813.5 2278 Missense Mutation CGC,TGC R690C NP_110440.1
XM_005274320.1 2278 Missense Mutation CGC,TGC R661C XP_005274377.1
XM_011545289.2 2278 Intron XP_011543591.1
Gene
LOC105369375
Gene Name
uncharacterized LOC105369375
There are no transcripts associated with this gene.

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