Product Details

SNP ID
rs41264929
Assay Type
Functionally tested
NCBI dbSNP Submissions
22
Location
Chr.1:155248276 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGGGGAAGGGCAGCGGGCTAGG[C/T]GGAAGAGGCAGGCTTCAGAGCAGAG
Phenotype
MIM: 606463 MIM: 606913
Polymorphism
C/T, 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 2213 Missense Mutation CAC,CGC H518R NP_001254537.1
NM_006589.2 2213 Missense Mutation CAC,CGC H536R NP_006580.2
NM_198264.1 2213 Missense Mutation CAC,CGC H440R NP_937995.1
XM_005244845.1 2213 Missense Mutation CAC,CGC H537R 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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