Product Details

SNP ID
rs144777839
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:72293443 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCGAGTCTTGCTGTCCTTGTCG[A/G]TGATCTCCAGACGCAGCTTGGGGAG
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 2258 Missense Mutation ACC,ATC T653I NP_001245321.1
NM_001258393.2 2258 Missense Mutation ACC,ATC T624I NP_001245322.1
NM_001258394.2 2258 Missense Mutation ACC,ATC T638I NP_001245323.1
NM_030813.5 2258 Missense Mutation ACC,ATC T683I NP_110440.1
XM_005274320.1 2258 Missense Mutation ACC,ATC T654I XP_005274377.1
XM_011545289.2 2258 Intron XP_011543591.1
Gene
LOC105369375
Gene Name
uncharacterized LOC105369375
There are no transcripts associated with this gene.

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