Product Details

SNP ID
rs147185134
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:140675114 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAAGCACCTGTGTCTCCGTGGTC[C/T]GTATCTTCTCCTCCAAAGCCTGGGG
Phenotype
MIM: 609385 MIM: 142810
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DND1 PubMed Links

Gene Details

Gene
DND1
Gene Name
DND microRNA-mediated repression inhibitor 1
There are no transcripts associated with this gene.

Gene
HARS
Gene Name
histidyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258040.2 1295 Missense Mutation NP_001244969.1
NM_001258041.2 1295 Missense Mutation NP_001244970.1
NM_001258042.2 1295 Missense Mutation NP_001244971.1
NM_001289092.1 1295 Missense Mutation NP_001276021.1
NM_001289093.1 1295 Missense Mutation NP_001276022.1
NM_001289094.1 1295 Missense Mutation NP_001276023.1
NM_002109.5 1295 Missense Mutation NP_002100.2
Gene
WDR55
Gene Name
WD repeat domain 55
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017706.4 1295 Intron NP_060176.2
XM_005268469.2 1295 Intron XP_005268526.1
XM_017009600.1 1295 Intron XP_016865089.1

View Full Product Details