Product Details

SNP ID
rs760077
Assay Type
Functionally tested
NCBI dbSNP Submissions
40
Location
Chr.1:155208991 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCACTTGGACGAGGCGCCGTGAC[A/T]CTCCGAGGCGCGCCGGGCCGACAGC
Phenotype
MIM: 600605 MIM: 188062
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GBAP1 PubMed Links

Gene Details

Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

Gene
MTX1
Gene Name
metaxin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002455.4 293 Missense Mutation ACT,TCT T63S NP_002446.3
NM_198883.3 293 Missense Mutation ACT,TCT T63S NP_942584.2
Gene
THBS3
Gene Name
thrombospondin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252607.1 293 Intron NP_001239536.1
NM_001252608.1 293 Intron NP_001239537.1
NM_007112.4 293 Intron NP_009043.1
XM_006711498.3 293 Intron XP_006711561.1
XM_011509926.2 293 Intron XP_011508228.1
XM_011509927.2 293 Intron XP_011508229.1
XM_011509928.2 293 Intron XP_011508230.1
XM_011509929.1 293 Intron XP_011508231.1
XM_011509930.2 293 Intron XP_011508232.1
XM_011509931.1 293 UTR 5 XP_011508233.1
XM_011509932.2 293 Intron XP_011508234.1
XM_011509933.1 293 UTR 5 XP_011508235.1
XM_011509934.1 293 Intron XP_011508236.1
XM_011509935.1 293 UTR 5 XP_011508237.1
XM_011509936.1 293 Intron XP_011508238.1
XM_017002206.1 293 Intron XP_016857695.1

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