Product Details

SNP ID
rs200002305
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:155247847 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTGGGGGCGGGTACCACGCTCCA[G/T]CCTGCGGCCAGACAGGAGACGCCGC
Phenotype
MIM: 606463 MIM: 606913
Polymorphism
G/T, Transversion 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 2548 Missense Mutation ATG,CTG M630L NP_001254537.1
NM_006589.2 2548 Missense Mutation ATG,CTG M648L NP_006580.2
NM_198264.1 2548 Missense Mutation ATG,CTG M552L NP_937995.1
XM_005244845.1 2548 Missense Mutation ATG,CTG M649L 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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