Product Details

SNP ID
rs200650446
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:41989505 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATACAATCTTCGTAATAAAGGCAAA[C/G]ACCTCGTACATACAGAGCATCTGCA
Phenotype
MIM: 601964
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DNAJC7 PubMed Links

Gene Details

Gene
DNAJC7
Gene Name
DnaJ heat shock protein family (Hsp40) member C7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144766.2 823 Missense Mutation CTT,GTT L162V NP_001138238.1
NM_003315.3 823 Missense Mutation CTT,GTT L218V NP_003306.3
XM_011525167.2 823 Missense Mutation CTT,GTT L162V XP_011523469.1
XM_011525168.2 823 Missense Mutation CTT,GTT L162V XP_011523470.1
XM_011525169.2 823 Intron XP_011523471.1
XM_017024994.1 823 Missense Mutation CTT,GTT L162V XP_016880483.1

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