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GCCATGGTTCCGGCTCCCCTTCACA[G/T]CCAGATGCAGATTCACATTTTGAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611054 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PPFIA1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PPFIA1 - PTPRF interacting protein alpha 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003626.3 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | NP_003617.1 | |
NM_177423.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | NP_803172.1 | |
XM_006718716.3 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_006718779.1 | |
XM_011545306.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543608.1 | |
XM_011545307.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543609.1 | |
XM_011545308.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543610.1 | |
XM_011545309.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543611.1 | |
XM_011545310.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543612.1 | |
XM_011545311.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543613.1 | |
XM_011545312.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543614.1 | |
XM_011545313.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543615.1 | |
XM_011545314.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543616.1 | |
XM_011545315.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543617.1 | |
XM_011545316.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543618.1 | |
XM_011545317.2 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543619.1 | |
XM_011545318.2 | 315 | Intron | XP_011543620.1 | |||
XM_011545319.1 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_011543621.1 | |
XM_017018448.1 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_016873937.1 | |
XM_017018449.1 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_016873938.1 | |
XM_017018450.1 | 315 | Missense Mutation | CAG,CAT | Q,H 29 | XP_016873939.1 |