Product Details

SNP ID

rs28727493

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:22694088 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTTGGAAATTTGAAAGAAGAAAA[A/T]TTGGACAAAGAGACAAGGAGAACAC

Phenotype

MIM: 606619

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GBA3 PubMed Links

Gene Details

Gene

GBA3

Gene Name

glucosylceramidase beta 3 (gene/pseudogene)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128432.2		Intron			NP_001121904.1
NM_001277225.1		Intron			NP_001264154.1
NM_020973.4		Intron			NP_066024.1

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