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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