Product Details

SNP ID

rs145309509

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:122076556 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTTTAATTCGCTCCAATATTGGT[C/T]CATAGATCTCCTTTGAAAAGGGCCC

Phenotype

MIM: 605113

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AASS PubMed Links

Gene Details

Gene

AASS

Gene Name

aminoadipate-semialdehyde synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005763.3	2859	Missense Mutation	GAA,GGA	E905G	NP_005754.2
XM_011515725.2	2859	Missense Mutation	GAA,GGA	E873G	XP_011514027.1

View Full Product Details