Product Details
- SNP ID
-
rs200892914
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.9:131579569 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTTTAATTTTCAGAGACAGTTCCCA[A/T]AGGGCCTCCTCAGCCAGGTGGTCAC
- Phenotype
-
MIM: 600303
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
RAPGEF1
PubMed Links
Gene Details
- Gene
- RAPGEF1
- Gene Name
- Rap guanine nucleotide exchange factor 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001304275.1 |
3375 |
Silent Mutation |
CTA,CTT |
L1071L |
NP_001291204.1 |
| NM_005312.3 |
3375 |
Silent Mutation |
CTA,CTT |
L1054L |
NP_005303.2 |
| NM_198679.1 |
3375 |
Silent Mutation |
CTA,CTT |
L1072L |
NP_941372.1 |
| XM_005272186.4 |
3375 |
Silent Mutation |
CTA,CTT |
L1241L |
XP_005272243.1 |
| XM_005272191.3 |
3375 |
Silent Mutation |
CTA,CTT |
L1203L |
XP_005272248.1 |
| XM_006717067.3 |
3375 |
Silent Mutation |
CTA,CTT |
L1247L |
XP_006717130.1 |
| XM_006717072.3 |
3375 |
Silent Mutation |
CTA,CTT |
L1209L |
XP_006717135.1 |
| XM_006717074.3 |
3375 |
Silent Mutation |
CTA,CTT |
L1077L |
XP_006717137.1 |
| XM_011518569.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1255L |
XP_011516871.1 |
| XM_011518570.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1254L |
XP_011516872.1 |
| XM_011518571.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1250L |
XP_011516873.1 |
| XM_011518572.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1249L |
XP_011516874.1 |
| XM_011518573.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1232L |
XP_011516875.1 |
| XM_011518574.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1224L |
XP_011516876.1 |
| XM_011518575.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1223L |
XP_011516877.1 |
| XM_011518576.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1138L |
XP_011516878.1 |
| XM_011518577.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1137L |
XP_011516879.1 |
| XM_011518578.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1116L |
XP_011516880.1 |
| XM_011518579.2 |
3375 |
Silent Mutation |
CTA,CTT |
L1085L |
XP_011516881.1 |
| XM_011518580.2 |
3375 |
Intron |
|
|
XP_011516882.1 |
| XM_011518581.2 |
3375 |
Intron |
|
|
XP_011516883.1 |
| XM_011518582.2 |
3375 |
Intron |
|
|
XP_011516884.1 |
| XM_017014633.1 |
3375 |
Silent Mutation |
CTA,CTT |
L1224L |
XP_016870122.1 |
| XM_017014634.1 |
3375 |
Silent Mutation |
CTA,CTT |
L1218L |
XP_016870123.1 |
| XM_017014635.1 |
3375 |
Silent Mutation |
CTA,CTT |
L1218L |
XP_016870124.1 |
| XM_017014636.1 |
3375 |
Silent Mutation |
CTA,CTT |
L1210L |
XP_016870125.1 |
| XM_017014637.1 |
3375 |
Silent Mutation |
CTA,CTT |
L1202L |
XP_016870126.1 |
| XM_017014638.1 |
3375 |
Silent Mutation |
CTA,CTT |
L1171L |
XP_016870127.1 |
| XM_017014639.1 |
3375 |
Silent Mutation |
CTA,CTT |
L1169L |
XP_016870128.1 |
| XM_017014640.1 |
3375 |
Intron |
|
|
XP_016870129.1 |
| XM_017014641.1 |
3375 |
Intron |
|
|
XP_016870130.1 |
View Full Product Details