Product Details

SNP ID
rs10548
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:72294058 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGCGGGCGCCATAGTGCACATT[A/G]TAGCCGTCGACCAGCACATCTGCCA
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 2049 Silent Mutation TAC,TAT Y583Y NP_001245321.1
NM_001258393.2 2049 Silent Mutation TAC,TAT Y554Y NP_001245322.1
NM_001258394.2 2049 Silent Mutation TAC,TAT Y568Y NP_001245323.1
NM_030813.5 2049 Silent Mutation TAC,TAT Y613Y NP_110440.1
XM_005274320.1 2049 Silent Mutation TAC,TAT Y584Y XP_005274377.1
XM_011545289.2 2049 Intron XP_011543591.1
Gene
LOC105369375
Gene Name
uncharacterized LOC105369375
There are no transcripts associated with this gene.

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