Product Details

SNP ID

rs1206380

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:122075911 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGCTTTATGACGAAATTTTTTCTGA[C/T]TAAAAAAGTAAAACTTCATTTGCTG

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	3504	UTR 3			NP_005754.2
XM_011515725.2	3504	UTR 3			XP_011514027.1

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