Product Details

SNP ID

rs121907981

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:72345550 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCGGCAACAGCCCCTGCTCTGGG[C/G]CTGGAGGAAAAGGGGCATGTGCCAG

Phenotype

MIM: 606869

Polymorphism

C/G, Transversion 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	1956	Missense Mutation	TGC,TGG	C474W	NP_000511.2
NM_001318825.1	1956	Missense Mutation	TGC,TGG	C485W	NP_001305754.1

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