Product Details

SNP ID
rs147153186
Assay Type
Functionally Tested
NCBI dbSNP Submissions
9
Location
Chr.1:21678674 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATAACAGCAAAACCGGAAGAGGA[C/T]GCTTTCACACATAATAAATGTTCTC
Phenotype
MIM: 600278
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
RAP1GAP PubMed Links

Gene Details

Gene
RAP1GAP
Gene Name
RAP1 GTPase activating protein
There are no transcripts associated with this gene.

Gene
USP48
Gene Name
ubiquitin specific peptidase 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001032730.1 Intron NP_001027902.1
XM_005246009.2 Intron XP_005246066.1
XM_006710951.2 Intron XP_006711014.2
XM_006710955.3 Intron XP_006711018.1
XM_011542262.2 Intron XP_011540564.1
XM_011542263.2 Intron XP_011540565.1
XM_011542264.1 Intron XP_011540566.1
XM_011542265.2 Intron XP_011540567.1
XM_011542267.2 Intron XP_011540569.1
XM_011542268.2 Intron XP_011540570.1
XM_017002495.1 Intron XP_016857984.1
XM_017002496.1 Intron XP_016857985.1
XM_017002497.1 Intron XP_016857986.1

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