Product Details

SNP ID

rs72547560

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.17:19651755 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

TACCCCTTCGTTCTCACCATTCAGC[C/T]ACTGATAGGAGCCATCGCTGCAGGT

Phenotype

MIM: 609523

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ALDH3A2 PubMed Links

Gene Details

Gene

ALDH3A2

Gene Name

aldehyde dehydrogenase 3 family member A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000382.2	491	Missense Mutation	CCA,CTA	P121L	NP_000373.1
NM_001031806.1	491	Missense Mutation	CCA,CTA	P121L	NP_001026976.1
XM_011523732.1	491	Missense Mutation	CCA,CTA	P121L	XP_011522034.1
XM_011523733.1	491	Missense Mutation	CCA,CTA	P121L	XP_011522035.1
XM_017024355.1	491	Missense Mutation	CCA,CTA	P121L	XP_016879844.1
XM_017024356.1	491	Missense Mutation	CCA,CTA	P121L	XP_016879845.1
XM_017024357.1	491	Missense Mutation	CCA,CTA	P121L	XP_016879846.1
XM_017024358.1	491	Missense Mutation	CCA,CTA	P121L	XP_016879847.1

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