Product Details
- SNP ID
-
rs762739
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:127048582 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGACGCCACGGCACTTCTCCAGCT[C/T]CTTGTGCTGGTTCCAGTCGCTCTCC
- Phenotype
-
MIM: 601248
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
BIN1
PubMed Links
Gene Details
- Gene
- BIN1
- Gene Name
- bridging integrator 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001320632.1 |
2228 |
Missense Mutation |
AAG,GAG |
K407E |
NP_001307561.1 |
NM_001320633.1 |
2228 |
Missense Mutation |
AAG,GAG |
K453E |
NP_001307562.1 |
NM_001320634.1 |
2228 |
Missense Mutation |
AAG,GAG |
K368E |
NP_001307563.1 |
NM_001320640.1 |
2228 |
Missense Mutation |
AAG,GAG |
K496E |
NP_001307569.1 |
NM_001320641.1 |
2228 |
Missense Mutation |
AAG,GAG |
K545E |
NP_001307570.1 |
NM_001320642.1 |
2228 |
Missense Mutation |
AAG,GAG |
K549E |
NP_001307571.1 |
NM_004305.3 |
2228 |
Missense Mutation |
AAG,GAG |
K437E |
NP_004296.1 |
NM_139343.2 |
2228 |
Missense Mutation |
AAG,GAG |
K576E |
NP_647593.1 |
NM_139344.2 |
2228 |
Missense Mutation |
AAG,GAG |
K533E |
NP_647594.1 |
NM_139345.2 |
2228 |
Missense Mutation |
AAG,GAG |
K489E |
NP_647595.1 |
NM_139346.2 |
2228 |
Missense Mutation |
AAG,GAG |
K480E |
NP_647596.1 |
NM_139347.2 |
2228 |
Missense Mutation |
AAG,GAG |
K501E |
NP_647597.1 |
NM_139348.2 |
2228 |
Missense Mutation |
AAG,GAG |
K465E |
NP_647598.1 |
NM_139349.2 |
2228 |
Missense Mutation |
AAG,GAG |
K458E |
NP_647599.1 |
NM_139350.2 |
2228 |
Missense Mutation |
AAG,GAG |
K422E |
NP_647600.1 |
NM_139351.2 |
2228 |
Missense Mutation |
AAG,GAG |
K392E |
NP_647601.1 |
XM_005263642.3 |
2228 |
Missense Mutation |
AAG,GAG |
K591E |
XP_005263699.1 |
XM_005263643.3 |
2228 |
Missense Mutation |
AAG,GAG |
K560E |
XP_005263700.1 |
XM_005263645.2 |
2228 |
Missense Mutation |
AAG,GAG |
K536E |
XP_005263702.1 |
XM_006712425.3 |
2228 |
Missense Mutation |
AAG,GAG |
K547E |
XP_006712488.1 |
XM_006712426.3 |
2228 |
Missense Mutation |
AAG,GAG |
K547E |
XP_006712489.1 |
XM_006712427.2 |
2228 |
Missense Mutation |
AAG,GAG |
K521E |
XP_006712490.1 |
XM_006712428.3 |
2228 |
Missense Mutation |
AAG,GAG |
K511E |
XP_006712491.1 |
XM_006712429.3 |
2228 |
Missense Mutation |
AAG,GAG |
K504E |
XP_006712492.1 |
XM_006712431.3 |
2228 |
Missense Mutation |
AAG,GAG |
K481E |
XP_006712494.1 |
XM_006712432.3 |
2228 |
Missense Mutation |
AAG,GAG |
K468E |
XP_006712495.1 |
XM_006712433.3 |
2228 |
Missense Mutation |
AAG,GAG |
K438E |
XP_006712496.1 |
XM_006712434.3 |
2228 |
Missense Mutation |
AAG,GAG |
K423E |
XP_006712497.1 |
XM_011510975.2 |
2228 |
Missense Mutation |
AAG,GAG |
K564E |
XP_011509277.1 |
XM_017003819.1 |
2228 |
Missense Mutation |
AAG,GAG |
K567E |
XP_016859308.1 |
XM_017003820.1 |
2228 |
Missense Mutation |
AAG,GAG |
K501E |
XP_016859309.1 |
XM_017003821.1 |
2228 |
Missense Mutation |
AAG,GAG |
K466E |
XP_016859310.1 |
XM_017003822.1 |
2228 |
Missense Mutation |
AAG,GAG |
K435E |
XP_016859311.1 |
XM_017003823.1 |
2228 |
Missense Mutation |
AAG,GAG |
K434E |
XP_016859312.1 |
XM_017003824.1 |
2228 |
Missense Mutation |
AAG,GAG |
K411E |
XP_016859313.1 |
XM_017003825.1 |
2228 |
Missense Mutation |
AAG,GAG |
K399E |
XP_016859314.1 |
XM_017003826.1 |
2228 |
Missense Mutation |
AAG,GAG |
K398E |
XP_016859315.1 |
XM_017003827.1 |
2228 |
Missense Mutation |
AAG,GAG |
K367E |
XP_016859316.1 |
XM_017003828.1 |
2228 |
Missense Mutation |
AAG,GAG |
K352E |
XP_016859317.1 |
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