Product Details

SNP ID

rs202173544

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:155248115 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTTCCTGGATATCTGGAGGAAAC[A/G]AGTGACCAGGCCCCGACCTGGCCAG

Phenotype

MIM: 606463 MIM: 606913

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM189B PubMed Links

Gene Details

Gene

FAM189B

Gene Name

family with sequence similarity 189 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267608.1	2374	Missense Mutation	CGT,TGT	R572C	NP_001254537.1
NM_006589.2	2374	Missense Mutation	CGT,TGT	R590C	NP_006580.2
NM_198264.1	2374	Missense Mutation	CGT,TGT	R494C	NP_937995.1
XM_005244845.1	2374	Missense Mutation	CGT,TGT	R591C	XP_005244902.1

Gene

GBA

Gene Name

glucosylceramidase beta

There are no transcripts associated with this gene.

Gene

SCAMP3

Gene Name

secretory carrier membrane protein 3

There are no transcripts associated with this gene.

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