Product Details

SNP ID
rs141309205
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:6635694 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGTTTATCCATCTGTATCGATC[C/T]TGTGGGCTGTAAAGGAAAAGACAGA
Phenotype
MIM: 614827 MIM: 612532
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DNAJC11 PubMed Links

Gene Details

Gene
DNAJC11
Gene Name
DnaJ heat shock protein family (Hsp40) member C11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018198.3 1767 Missense Mutation AAG,AGG K554R NP_060668.2
XM_017001745.1 1767 Missense Mutation AAG,AGG K464R XP_016857234.1
Gene
THAP3
Gene Name
THAP domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195752.1 1767 Intron NP_001182681.1
NM_001195753.1 1767 Intron NP_001182682.1
NM_138350.3 1767 Intron NP_612359.2
XM_005263532.3 1767 Intron XP_005263589.1
XM_011542400.2 1767 Intron XP_011540702.1
XM_011542401.2 1767 Intron XP_011540703.1
XM_017002761.1 1767 Intron XP_016858250.1

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