Product Details

SNP ID
rs111714481
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:40817334 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACCACTGCACTCCAGCCTGGGT[C/G]ACAGAGCAAGACTCTGTCAAAAAAA
Phenotype
MIM: 616844 MIM: 613256
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DNAJC17 PubMed Links

Gene Details

Gene
DNAJC17
Gene Name
DnaJ heat shock protein family (Hsp40) member C17
There are no transcripts associated with this gene.

Gene
PPP1R14D
Gene Name
protein phosphatase 1 regulatory inhibitor subunit 14D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130143.1 337 Nonsense Mutation TCA,TGA S90* NP_001123615.1
NM_017726.7 337 Intron NP_060196.1
XM_017022372.1 337 Intron XP_016877861.1
Gene
ZFYVE19
Gene Name
zinc finger FYVE-type containing 19
There are no transcripts associated with this gene.

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