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SNP ID: rs139699964
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:140674750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGTTCCTGCTCGCCGATGATAGCCA[C/T]CAGTGGGATGCCTGCCTCCTCACAG
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	1468	Missense Mutation	ATG,GTG	M423V	NP_001244969.1
NM_001258041.2	1468	Missense Mutation	ATG,GTG	M443V	NP_001244970.1
NM_001258042.2	1468	Missense Mutation	ATG,GTG	M403V	NP_001244971.1
NM_001289092.1	1468	Missense Mutation	ATG,GTG	M389V	NP_001276021.1
NM_001289093.1	1468	Missense Mutation	ATG,GTG	M349V	NP_001276022.1
NM_001289094.1	1468	Missense Mutation	ATG,GTG	M434V	NP_001276023.1
NM_002109.5	1468	Missense Mutation	ATG,GTG	M463V	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	1468	Intron			NP_060176.2
XM_005268469.2	1468	Intron			XP_005268526.1
XM_017009600.1	1468	Intron			XP_016865089.1

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