Product Details

SNP ID

rs140285200

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:122076508 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCAATTATGGTTTAATTGTACTC[C/T]GTGTAGTATATATAATGCCTTCTGC

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	2907	Missense Mutation	CAG,CGG	Q921R	NP_005754.2
XM_011515725.2	2907	Missense Mutation	CAG,CGG	Q889R	XP_011514027.1

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