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GTAACATTAATGAATGTTTCCATAC[C/T]GTAATATTCCCAGCTGGAGACTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600403 | ||||||||||||||||||||
Literature Links: |
FAP 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 |
FAP - fibroblast activation protein alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291807.1 | 2102 | Missense Mutation | ACG,GCG | T,A 632 | NP_001278736.1 | |
NM_004460.3 | 2102 | Missense Mutation | ACG,GCG | T,A 657 | NP_004451.2 | |
XM_011510796.2 | 2102 | Missense Mutation | ACG,GCG | T,A 647 | XP_011509098.1 | |
XM_011510797.2 | 2102 | Intron | XP_011509099.1 | |||
XM_017003585.1 | 2102 | Intron | XP_016859074.1 |
LOC101929532 - uncharacterized LOC101929532 | ||||||
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There are no transcripts associated with this gene. |