Product Details

SNP ID
rs201522478
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:21679429 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTATTCAAAGATTAATGTCCAAG[A/G]AGACCAGTACCTGGGAAAAGAAACA
Phenotype
MIM: 600278
Polymorphism
A/G, 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 3894 Intron NP_001027902.1
XM_005246009.2 3894 Silent Mutation CTC,CTT L980L XP_005246066.1
XM_006710951.2 3894 Silent Mutation CTC,CTT L1030L XP_006711014.2
XM_006710955.3 3894 Silent Mutation CTC,CTT L966L XP_006711018.1
XM_011542262.2 3894 Silent Mutation CTC,CTT L1031L XP_011540564.1
XM_011542263.2 3894 Silent Mutation CTC,CTT L1031L XP_011540565.1
XM_011542264.1 3894 Silent Mutation CTC,CTT L965L XP_011540566.1
XM_011542265.2 3894 Silent Mutation CTC,CTT L905L XP_011540567.1
XM_011542267.2 3894 Silent Mutation CTC,CTT L618L XP_011540569.1
XM_011542268.2 3894 Silent Mutation CTC,CTT L618L XP_011540570.1
XM_017002495.1 3894 Silent Mutation CTC,CTT L965L XP_016857984.1
XM_017002496.1 3894 Intron XP_016857985.1
XM_017002497.1 3894 Silent Mutation CTC,CTT L618L XP_016857986.1

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