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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