Product Details

SNP ID
rs113721604
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:35738263 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCAGTCTCTCATAGGCTTCTTG[G/T]CCCCGGCTGAGGATAGAAGAAAACT
Phenotype
MIM: 606443 MIM: 609471 MIM: 186745
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CREB3 PubMed Links

Gene Details

Gene
CREB3
Gene Name
cAMP responsive element binding protein 3
There are no transcripts associated with this gene.

Gene
GBA2
Gene Name
glucosylceramidase beta 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020944.2 2669 Silent Mutation GGA,GGC G722G NP_065995.1
XM_005251526.4 2669 Silent Mutation GGA,GGC G706G XP_005251583.1
XM_006716809.3 2669 Silent Mutation GGA,GGC G728G XP_006716872.1
XM_011517973.2 2669 Silent Mutation GGA,GGC G722G XP_011516275.1
XM_017014937.1 2669 Silent Mutation GGA,GGC G700G XP_016870426.1
XM_017014938.1 2669 Silent Mutation GGA,GGC G728G XP_016870427.1
XM_017014939.1 2669 Silent Mutation GGA,GGC G700G XP_016870428.1
XM_017014940.1 2669 Silent Mutation GGA,GGC G649G XP_016870429.1
XM_017014941.1 2669 Silent Mutation GGA,GGC G649G XP_016870430.1
XM_017014942.1 2669 Silent Mutation GGA,GGC G577G XP_016870431.1
XM_017014943.1 2669 Silent Mutation GGA,GGC G571G XP_016870432.1
XM_017014944.1 2669 Silent Mutation GGA,GGC G543G XP_016870433.1
XM_017014945.1 2669 Silent Mutation GGA,GGC G537G XP_016870434.1
XM_017014946.1 2669 Silent Mutation GGA,GGC G435G XP_016870435.1
Gene
MIR6853
Gene Name
microRNA 6853
There are no transcripts associated with this gene.

Gene
TLN1
Gene Name
talin 1
There are no transcripts associated with this gene.

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