Product Details

SNP ID

rs4777502

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:72345454 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCCCACAGCTTGCTTACCTCAGCAA[C/T]TCACAGCGGAAGTGTGACAAACGTT

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	2052	Silent Mutation	GAC,GAT	D506D	NP_000511.2
NM_001318825.1	2052	Silent Mutation	GAC,GAT	D517D	NP_001305754.1

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