Product Details

SNP ID

rs76075374

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:72343502 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATAAAATTGAAGCAGCAAGAAAC[C/T]CAAAGGAGAATAGCTCTAGGGGAGG

Phenotype

MIM: 606869

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HEXA PubMed Links

Gene Details

Gene

HEXA

Gene Name

hexosaminidase subunit alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000520.5	2699	UTR 3			NP_000511.2
NM_001318825.1	2699	UTR 3			NP_001305754.1

View Full Product Details