Product Details

SNP ID

rs150012791

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:244411355 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCATTAACAGGTAGTTCTTTAAAC[A/G]CCCTTGCATTTGATATGTCTGTGTT

Phenotype

MIM: 103060

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADSS PubMed Links

Gene Details

Gene

ADSS

Gene Name

adenylosuccinate synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001126.3	2239	Missense Mutation	GCG,GTG	A417V	NP_001117.2
XM_011544108.2	2239	Missense Mutation	GCG,GTG	A357V	XP_011542410.1

View Full Product Details