Product Details

SNP ID
rs139166688
Assay Type
Functionally Tested
NCBI dbSNP Submissions
2
Location
Chr.1:6636167 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGTCCAGCACCATCACCTGATGC[A/G]GGACGCCCCGGAACTGATAGAGCAC
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 1710 Missense Mutation CCG,CTG P535L NP_060668.2
XM_017001745.1 1710 Missense Mutation CCG,CTG P445L 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 1710 Intron NP_001182681.1
NM_001195753.1 1710 Intron NP_001182682.1
NM_138350.3 1710 Intron NP_612359.2
XM_005263532.3 1710 Intron XP_005263589.1
XM_011542400.2 1710 Intron XP_011540702.1
XM_011542401.2 1710 Intron XP_011540703.1
XM_017002761.1 1710 Intron XP_016858250.1

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