Product Details

SNP ID

rs192923161

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:140676671 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACCTACCTCTAGTCTCTGTTCCA[C/T]GATGGAGAAAATCCGCTCCACCCCA

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	1258	Missense Mutation	ATG,GTG	M353V	NP_001244969.1
NM_001258041.2	1258	Missense Mutation	ATG,GTG	M373V	NP_001244970.1
NM_001258042.2	1258	Missense Mutation	ATG,GTG	M333V	NP_001244971.1
NM_001289092.1	1258	Missense Mutation	ATG,GTG	M319V	NP_001276021.1
NM_001289093.1	1258	Missense Mutation	ATG,GTG	M279V	NP_001276022.1
NM_001289094.1	1258	Missense Mutation	ATG,GTG	M364V	NP_001276023.1
NM_002109.5	1258	Missense Mutation	ATG,GTG	M393V	NP_002100.2

Gene

WDR55

Gene Name

WD repeat domain 55

There are no transcripts associated with this gene.

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