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- SNP ID:
- rs869025669
- Gene
-
FGFR1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.8: 38427970 - 38427970 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
AGGTTTGAATTCTTTGCCATTTTTC[A/G]ACCAGCGCAGTGTGGGGTTTGGGGT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 136350
|
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Literature Links: |
FGFR1 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 |
| FGFR1 - fibroblast growth factor receptor 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001174063.1 | 413 | Missense Mutation | TCG,TTG | S,L 191 | NP_001167534.1 | |
| NM_001174064.1 | 413 | Missense Mutation | TCG,TTG | S,L 183 | NP_001167535.1 | |
| NM_001174065.1 | 413 | Missense Mutation | TCG,TTG | S,L 189 | NP_001167536.1 | |
| NM_001174066.1 | 413 | Missense Mutation | TCG,TTG | S,L 102 | NP_001167537.1 | |
| NM_001174067.1 | 413 | Missense Mutation | TCG,TTG | S,L 222 | NP_001167538.1 | |
| NM_015850.3 | 413 | Missense Mutation | TCG,TTG | S,L 189 | NP_056934.2 | |
| NM_023105.2 | 413 | Missense Mutation | TCG,TTG | S,L 102 | NP_075593.1 | |
| NM_023106.2 | 413 | Missense Mutation | TCG,TTG | S,L 100 | NP_075594.1 | |
| NM_023110.2 | 413 | Missense Mutation | TCG,TTG | S,L 191 | NP_075598.2 | |
| XM_006716303.2 | 413 | Missense Mutation | TCG,TTG | S,L 191 | XP_006716366.1 | |
| XM_006716304.1 | 413 | Missense Mutation | TCG,TTG | S,L 191 | XP_006716367.1 | |
| XM_006716306.2 | 413 | Missense Mutation | TCG,TTG | S,L 189 | XP_006716369.1 | |
| XM_006716307.1 | 413 | Missense Mutation | TCG,TTG | S,L 189 | XP_006716370.1 | |
| XM_006716309.3 | 413 | Missense Mutation | TCG,TTG | S,L 183 | XP_006716372.1 | |
| XM_006716310.2 | 413 | Missense Mutation | TCG,TTG | S,L 102 | XP_006716373.1 | |
| XM_006716311.1 | 413 | Missense Mutation | TCG,TTG | S,L 102 | XP_006716374.1 | |
| XM_006716312.1 | 413 | Missense Mutation | TCG,TTG | S,L 102 | XP_006716375.1 | |
| XM_006716313.2 | 413 | Missense Mutation | TCG,TTG | S,L 100 | XP_006716376.1 | |
| XM_006716314.1 | 413 | Missense Mutation | TCG,TTG | S,L 100 | XP_006716377.1 | |
| XM_011544443.2 | 413 | Missense Mutation | TCG,TTG | S,L 224 | XP_011542745.1 | |
| XM_011544444.1 | 413 | Missense Mutation | TCG,TTG | S,L 222 | XP_011542746.1 | |
| XM_011544445.2 | 413 | Missense Mutation | TCG,TTG | S,L 224 | XP_011542747.1 | |
| XM_011544446.2 | 413 | Missense Mutation | TCG,TTG | S,L 224 | XP_011542748.1 | |
| XM_011544447.2 | 413 | Missense Mutation | TCG,TTG | S,L 224 | XP_011542749.1 | |
| XM_011544448.1 | 413 | Missense Mutation | TCG,TTG | S,L 135 | XP_011542750.1 | |
| XM_011544449.1 | 413 | Missense Mutation | TCG,TTG | S,L 133 | XP_011542751.1 | |
| XM_011544450.2 | 413 | Missense Mutation | TCG,TTG | S,L 133 | XP_011542752.1 | |
| XM_011544451.1 | 413 | Missense Mutation | TCG,TTG | S,L 94 | XP_011542753.1 | |
| XM_011544452.2 | 413 | Missense Mutation | TCG,TTG | S,L 222 | XP_011542754.1 | |
| XM_017013219.1 | 413 | Missense Mutation | TCG,TTG | S,L 222 | XP_016868708.1 | |
| XM_017013220.1 | 413 | Missense Mutation | TCG,TTG | S,L 222 | XP_016868709.1 | |
| XM_017013221.1 | 413 | Missense Mutation | TCG,TTG | S,L 191 | XP_016868710.1 | |
| XM_017013222.1 | 413 | Missense Mutation | TCG,TTG | S,L 191 | XP_016868711.1 | |
| XM_017013223.1 | 413 | Missense Mutation | TCG,TTG | S,L 189 | XP_016868712.1 | |
| XM_017013224.1 | 413 | Missense Mutation | TCG,TTG | S,L 189 | XP_016868713.1 | |
| XM_017013225.1 | 413 | Missense Mutation | TCG,TTG | S,L 189 | XP_016868714.1 | |
| XM_017013226.1 | 413 | Missense Mutation | TCG,TTG | S,L 135 | XP_016868715.1 | |
| XM_017013227.1 | 413 | Missense Mutation | TCG,TTG | S,L 133 | XP_016868716.1 | |
| XM_017013228.1 | 413 | Missense Mutation | TCG,TTG | S,L 100 | XP_016868717.1 | |
| XM_017013229.1 | 413 | Intron | XP_016868718.1 | |||
| XM_017013230.1 | 413 | UTR 5 | XP_016868719.1 | |||
| XM_017013231.1 | 413 | Missense Mutation | TCG,TTG | S,L 224 | XP_016868720.1 | |
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