Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGAAACCTGGGGGCAGGTCCAAGC[A/G]CCCGGCCCCACTGCCGCCCTCCACG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601248 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BIN1 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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BIN1 - bridging integrator 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320632.1 | 2042 | Missense Mutation | CGC,TGC | R,C 345 | NP_001307561.1 | |
NM_001320633.1 | 2042 | Missense Mutation | CGC,TGC | R,C 391 | NP_001307562.1 | |
NM_001320634.1 | 2042 | Missense Mutation | CGC,TGC | R,C 306 | NP_001307563.1 | |
NM_001320640.1 | 2042 | Missense Mutation | CGC,TGC | R,C 434 | NP_001307569.1 | |
NM_001320641.1 | 2042 | Missense Mutation | CGC,TGC | R,C 483 | NP_001307570.1 | |
NM_001320642.1 | 2042 | Missense Mutation | CGC,TGC | R,C 487 | NP_001307571.1 | |
NM_004305.3 | 2042 | Missense Mutation | CGC,TGC | R,C 375 | NP_004296.1 | |
NM_139343.2 | 2042 | Missense Mutation | CGC,TGC | R,C 514 | NP_647593.1 | |
NM_139344.2 | 2042 | Missense Mutation | CGC,TGC | R,C 471 | NP_647594.1 | |
NM_139345.2 | 2042 | Missense Mutation | CGC,TGC | R,C 427 | NP_647595.1 | |
NM_139346.2 | 2042 | Missense Mutation | CGC,TGC | R,C 418 | NP_647596.1 | |
NM_139347.2 | 2042 | Missense Mutation | CGC,TGC | R,C 439 | NP_647597.1 | |
NM_139348.2 | 2042 | Missense Mutation | CGC,TGC | R,C 403 | NP_647598.1 | |
NM_139349.2 | 2042 | Missense Mutation | CGC,TGC | R,C 396 | NP_647599.1 | |
NM_139350.2 | 2042 | Missense Mutation | CGC,TGC | R,C 360 | NP_647600.1 | |
NM_139351.2 | 2042 | Missense Mutation | CGC,TGC | R,C 330 | NP_647601.1 | |
XM_005263642.3 | 2042 | Missense Mutation | CGC,TGC | R,C 529 | XP_005263699.1 | |
XM_005263643.3 | 2042 | Missense Mutation | CGC,TGC | R,C 498 | XP_005263700.1 | |
XM_005263645.2 | 2042 | Missense Mutation | CGC,TGC | R,C 474 | XP_005263702.1 | |
XM_006712425.3 | 2042 | Missense Mutation | CGC,TGC | R,C 485 | XP_006712488.1 | |
XM_006712426.3 | 2042 | Missense Mutation | CGC,TGC | R,C 485 | XP_006712489.1 | |
XM_006712427.2 | 2042 | Missense Mutation | CGC,TGC | R,C 459 | XP_006712490.1 | |
XM_006712428.3 | 2042 | Missense Mutation | CGC,TGC | R,C 449 | XP_006712491.1 | |
XM_006712429.3 | 2042 | Missense Mutation | CGC,TGC | R,C 442 | XP_006712492.1 | |
XM_006712431.3 | 2042 | Missense Mutation | CGC,TGC | R,C 419 | XP_006712494.1 | |
XM_006712432.3 | 2042 | Missense Mutation | CGC,TGC | R,C 406 | XP_006712495.1 | |
XM_006712433.3 | 2042 | Missense Mutation | CGC,TGC | R,C 376 | XP_006712496.1 | |
XM_006712434.3 | 2042 | Missense Mutation | CGC,TGC | R,C 361 | XP_006712497.1 | |
XM_011510975.2 | 2042 | Missense Mutation | CGC,TGC | R,C 502 | XP_011509277.1 | |
XM_017003819.1 | 2042 | Missense Mutation | CGC,TGC | R,C 505 | XP_016859308.1 | |
XM_017003820.1 | 2042 | Missense Mutation | CGC,TGC | R,C 439 | XP_016859309.1 | |
XM_017003821.1 | 2042 | Missense Mutation | CGC,TGC | R,C 404 | XP_016859310.1 | |
XM_017003822.1 | 2042 | Missense Mutation | CGC,TGC | R,C 373 | XP_016859311.1 | |
XM_017003823.1 | 2042 | Missense Mutation | CGC,TGC | R,C 372 | XP_016859312.1 | |
XM_017003824.1 | 2042 | Missense Mutation | CGC,TGC | R,C 349 | XP_016859313.1 | |
XM_017003825.1 | 2042 | Missense Mutation | CGC,TGC | R,C 337 | XP_016859314.1 | |
XM_017003826.1 | 2042 | Missense Mutation | CGC,TGC | R,C 336 | XP_016859315.1 | |
XM_017003827.1 | 2042 | Intron | XP_016859316.1 | |||
XM_017003828.1 | 2042 | Intron | XP_016859317.1 |