Product Details

SNP ID

rs201011416

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:140675100 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGTGCAGATGCCACAAGCACCT[A/G]TGTCTCCGTGGTCCGTATCTTCTCC

Phenotype

MIM: 609385 MIM: 142810

Polymorphism

A/G, 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	1309	Nonsense Mutation	CAG,TAG	Q370*	NP_001244969.1
NM_001258041.2	1309	Nonsense Mutation	CAG,TAG	Q390*	NP_001244970.1
NM_001258042.2	1309	Nonsense Mutation	CAG,TAG	Q350*	NP_001244971.1
NM_001289092.1	1309	Nonsense Mutation	CAG,TAG	Q336*	NP_001276021.1
NM_001289093.1	1309	Nonsense Mutation	CAG,TAG	Q296*	NP_001276022.1
NM_001289094.1	1309	Nonsense Mutation	CAG,TAG	Q381*	NP_001276023.1
NM_002109.5	1309	Nonsense Mutation	CAG,TAG	Q410*	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	1309	Intron			NP_060176.2
XM_005268469.2	1309	Intron			XP_005268526.1
XM_017009600.1	1309	Intron			XP_016865089.1

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