Product Details

SNP ID

rs116061308

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:122077880 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCCATGGCGGTGGGTAACCCCA[C/T]GGTTTTAGCCATGGCTGAAAAGCCA

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	2765	Missense Mutation	ATG,GTG	M874V	NP_005754.2
XM_011515725.2	2765	Missense Mutation	ATG,GTG	M842V	XP_011514027.1

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