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SNP ID: rs199615869
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:140674735 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATGACCCCATCCTTGAGTTCCTGCT[C/T]GCCGATGATAGCCACCAGTGGGATG
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	1483	Missense Mutation	AAG,GAG	K428E	NP_001244969.1
NM_001258041.2	1483	Missense Mutation	AAG,GAG	K448E	NP_001244970.1
NM_001258042.2	1483	Missense Mutation	AAG,GAG	K408E	NP_001244971.1
NM_001289092.1	1483	Missense Mutation	AAG,GAG	K394E	NP_001276021.1
NM_001289093.1	1483	Missense Mutation	AAG,GAG	K354E	NP_001276022.1
NM_001289094.1	1483	Missense Mutation	AAG,GAG	K439E	NP_001276023.1
NM_002109.5	1483	Missense Mutation	AAG,GAG	K468E	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	1483	Intron			NP_060176.2
XM_005268469.2	1483	Intron			XP_005268526.1
XM_017009600.1	1483	Intron			XP_016865089.1

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