Product Details

SNP ID

rs185867137

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75630460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTCATTATCTGTGGGTGATCAC[A/C]GATGAATGTAGGATTGATGCAAGTC

Phenotype

MIM: 604230 MIM: 601421

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ADAT1 PubMed Links

Gene Details

Gene

ADAT1

Gene Name

adenosine deaminase, tRNA specific 1

There are no transcripts associated with this gene.

Gene

KARS

Gene Name

lysyl-tRNA synthetase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130089.1	1527	Missense Mutation	GGT,TGT	G491C	NP_001123561.1
NM_005548.2	1527	Intron			NP_005539.1
XM_017023217.1	1527	Missense Mutation	GGT,TGT	G307C	XP_016878706.1

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