Product Details

SNP ID
rs61732801
Assay Type
Functionally tested
NCBI dbSNP Submissions
22
Location
Chr.1:155248283 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGGGCAGCGGGCTAGGCGGAAGA[A/G]GCAGGCTTCAGAGCAGAGCCCTGCA
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 2206 Missense Mutation CTC,TTC L516F NP_001254537.1
NM_006589.2 2206 Missense Mutation CTC,TTC L534F NP_006580.2
NM_198264.1 2206 Missense Mutation CTC,TTC L438F NP_937995.1
XM_005244845.1 2206 Missense Mutation CTC,TTC L535F 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.

View Full Product Details