Search Thermo Fisher Scientific
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CGTCTGCTCCTAGGTCTTCTCTTCC[C/T]GGTCTGTTTTTCTCCTTGTTATGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600303 | ||||||||||||||||||||
Literature Links: |
RAPGEF1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
RAPGEF1 - Rap guanine nucleotide exchange factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304275.1 | 3431 | Missense Mutation | CAG,CGG | Q,R 1090 | NP_001291204.1 | |
NM_005312.3 | 3431 | Missense Mutation | CAG,CGG | Q,R 1073 | NP_005303.2 | |
NM_198679.1 | 3431 | Missense Mutation | CAG,CGG | Q,R 1091 | NP_941372.1 | |
XM_005272186.4 | 3431 | Missense Mutation | CAG,CGG | Q,R 1260 | XP_005272243.1 | |
XM_005272191.3 | 3431 | Missense Mutation | CAG,CGG | Q,R 1222 | XP_005272248.1 | |
XM_006717067.3 | 3431 | Missense Mutation | CAG,CGG | Q,R 1266 | XP_006717130.1 | |
XM_006717072.3 | 3431 | Missense Mutation | CAG,CGG | Q,R 1228 | XP_006717135.1 | |
XM_006717074.3 | 3431 | Missense Mutation | CAG,CGG | Q,R 1096 | XP_006717137.1 | |
XM_011518569.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1274 | XP_011516871.1 | |
XM_011518570.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1273 | XP_011516872.1 | |
XM_011518571.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1269 | XP_011516873.1 | |
XM_011518572.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1268 | XP_011516874.1 | |
XM_011518573.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1251 | XP_011516875.1 | |
XM_011518574.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1243 | XP_011516876.1 | |
XM_011518575.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1242 | XP_011516877.1 | |
XM_011518576.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1157 | XP_011516878.1 | |
XM_011518577.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1156 | XP_011516879.1 | |
XM_011518578.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1135 | XP_011516880.1 | |
XM_011518579.2 | 3431 | Missense Mutation | CAG,CGG | Q,R 1104 | XP_011516881.1 | |
XM_011518580.2 | 3431 | Intron | XP_011516882.1 | |||
XM_011518581.2 | 3431 | Intron | XP_011516883.1 | |||
XM_011518582.2 | 3431 | Intron | XP_011516884.1 | |||
XM_017014633.1 | 3431 | Missense Mutation | CAG,CGG | Q,R 1243 | XP_016870122.1 | |
XM_017014634.1 | 3431 | Missense Mutation | CAG,CGG | Q,R 1237 | XP_016870123.1 | |
XM_017014635.1 | 3431 | Missense Mutation | CAG,CGG | Q,R 1237 | XP_016870124.1 | |
XM_017014636.1 | 3431 | Missense Mutation | CAG,CGG | Q,R 1229 | XP_016870125.1 | |
XM_017014637.1 | 3431 | Missense Mutation | CAG,CGG | Q,R 1221 | XP_016870126.1 | |
XM_017014638.1 | 3431 | Missense Mutation | CAG,CGG | Q,R 1190 | XP_016870127.1 | |
XM_017014639.1 | 3431 | Missense Mutation | CAG,CGG | Q,R 1188 | XP_016870128.1 | |
XM_017014640.1 | 3431 | Intron | XP_016870129.1 | |||
XM_017014641.1 | 3431 | Intron | XP_016870130.1 |