Product Details

SNP ID
rs139008319
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:6636172 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCACCATCACCTGATGCAGGAC[A/G]CCCCGGAACTGATAGAGCACTTTCA
Phenotype
MIM: 614827 MIM: 612532
Polymorphism
A/G, 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 1705 Silent Mutation GGC,GGT G533G NP_060668.2
XM_017001745.1 1705 Silent Mutation GGC,GGT G443G 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 1705 Intron NP_001182681.1
NM_001195753.1 1705 Intron NP_001182682.1
NM_138350.3 1705 Intron NP_612359.2
XM_005263532.3 1705 Intron XP_005263589.1
XM_011542400.2 1705 Intron XP_011540702.1
XM_011542401.2 1705 Intron XP_011540703.1
XM_017002761.1 1705 Intron XP_016858250.1

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