Product Details

SNP ID
rs1059218
Assay Type
Functionally Tested
NCBI dbSNP Submissions
38
Location
Chr.1:21679172 on Build GRCh38
Set Membership
JSNP
Context Sequence [VIC/FAM]
AAACTTGTTCCGTCTTTACTTGCCC[C/T]CTCCCACCCACCACCCCCCTTAAAT
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 4151 Intron NP_001027902.1
XM_005246009.2 4151 UTR 3 XP_005246066.1
XM_006710951.2 4151 UTR 3 XP_006711014.2
XM_006710955.3 4151 UTR 3 XP_006711018.1
XM_011542262.2 4151 UTR 3 XP_011540564.1
XM_011542263.2 4151 UTR 3 XP_011540565.1
XM_011542264.1 4151 UTR 3 XP_011540566.1
XM_011542265.2 4151 UTR 3 XP_011540567.1
XM_011542267.2 4151 UTR 3 XP_011540569.1
XM_011542268.2 4151 UTR 3 XP_011540570.1
XM_017002495.1 4151 UTR 3 XP_016857984.1
XM_017002496.1 4151 Intron XP_016857985.1
XM_017002497.1 4151 UTR 3 XP_016857986.1

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