Product Details

SNP ID

rs150010039

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42954888 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTAATTTCTCACCTGTGTAATATG[A/G]CCACACCTCCCCAGTCTGGACTGTT

Phenotype

MIM: 613212

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AARSD1 PubMed Links

Gene Details

Gene

AARSD1

Gene Name

alanyl-tRNA synthetase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261434.1	1809	Missense Mutation	GCC,GTC	A314V	NP_001248363.1

Gene

PTGES3L-AARSD1

Gene Name

PTGES3L-AARSD1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136042.2	1809	Missense Mutation	GCC,GTC	A488V	NP_001129514.2
NM_025267.3	1809	Missense Mutation	GCC,GTC	A427V	NP_079543.1

View Full Product Details