Product Details

SNP ID

rs141697482

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75603139 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTCTGCTTAGCAGCTTCTGGAAT[A/G]ATCTGAAGAGTTCCACTTTGCTGAT

Phenotype

MIM: 604230

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADAT1 PubMed Links

Gene Details

Gene

ADAT1

Gene Name

adenosine deaminase, tRNA specific 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324444.1	2076	Missense Mutation	TCA,TTA	S292L	NP_001311373.1
NM_001324445.1	2076	Missense Mutation	TCA,TTA	S441L	NP_001311374.1
NM_001324446.1	2076	Missense Mutation	TCA,TTA	S292L	NP_001311375.1
NM_001324448.1	2076	Missense Mutation	TCA,TTA	S359L	NP_001311377.1
NM_001324449.1	2076	Missense Mutation	TCA,TTA	S359L	NP_001311378.1
NM_001324450.1	2076	Missense Mutation	TCA,TTA	S210L	NP_001311379.1
NM_001324451.1	2076	Missense Mutation	TCA,TTA	S210L	NP_001311380.1
NM_001324452.1	2076	Missense Mutation	TCA,TTA	S354L	NP_001311381.1
NM_001324453.1	2076	Missense Mutation	TCA,TTA	S272L	NP_001311382.1
NM_012091.4	2076	Missense Mutation	TCA,TTA	S441L	NP_036223.2

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