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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