Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCAGACTTCCAGCTGTGTTTCTTC[C/G]TAATACAATATCTTTACAGTTATAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607686 MIM: 609732 | ||||||||||||||||||||
Literature Links: |
FIP1L1 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 |
FIP1L1 - factor interacting with PAPOLA and CPSF1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134937.1 | 2428 | Intron | NP_001128409.1 | |||
NM_001134938.1 | 2428 | Intron | NP_001128410.1 | |||
NM_030917.3 | 2428 | Intron | NP_112179.2 | |||
XM_005265769.4 | 2428 | UTR 3 | XP_005265826.1 | |||
XM_005265773.4 | 2428 | UTR 3 | XP_005265830.1 | |||
XM_005265774.4 | 2428 | UTR 3 | XP_005265831.1 | |||
XM_005265778.4 | 2428 | UTR 3 | XP_005265835.1 | |||
XM_005265779.4 | 2428 | UTR 3 | XP_005265836.1 | |||
XM_005265781.4 | 2428 | UTR 3 | XP_005265838.1 | |||
XM_005265782.4 | 2428 | UTR 3 | XP_005265839.1 | |||
XM_017008662.1 | 2428 | UTR 3 | XP_016864151.1 | |||
XM_017008663.1 | 2428 | UTR 3 | XP_016864152.1 | |||
XM_017008664.1 | 2428 | UTR 3 | XP_016864153.1 | |||
XM_017008665.1 | 2428 | UTR 3 | XP_016864154.1 | |||
XM_017008666.1 | 2428 | UTR 3 | XP_016864155.1 | |||
XM_017008667.1 | 2428 | UTR 3 | XP_016864156.1 | |||
XM_017008668.1 | 2428 | UTR 3 | XP_016864157.1 | |||
XM_017008669.1 | 2428 | UTR 3 | XP_016864158.1 | |||
XM_017008670.1 | 2428 | UTR 3 | XP_016864159.1 | |||
XM_017008671.1 | 2428 | UTR 3 | XP_016864160.1 |
LNX1 - ligand of numb-protein X 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001126328.2 | 2428 | Missense Mutation | CGA,GGA | R,G 642 | NP_001119800.1 | |
NM_032622.2 | 2428 | Missense Mutation | CGA,GGA | R,G 546 | NP_116011.2 | |
XM_005265785.4 | 2428 | Nonsense Mutation | CGA,GGA | R,G 642 | XP_005265842.1 | |
XM_017008776.1 | 2428 | Nonsense Mutation | CGA,GGA | R,G 642 | XP_016864265.1 |