Product Details

SNP ID

rs187977939

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:127048535 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTGGGCCCCGCCGTCATGGGAC[C/T]CTCTCAGTGAAGTTCTCGGGGAAGA

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	2275	Silent Mutation	AGA,AGG	R422R	NP_001307561.1
NM_001320633.1	2275	Silent Mutation	AGA,AGG	R468R	NP_001307562.1
NM_001320634.1	2275	Silent Mutation	AGA,AGG	R383R	NP_001307563.1
NM_001320640.1	2275	Silent Mutation	AGA,AGG	R511R	NP_001307569.1
NM_001320641.1	2275	Silent Mutation	AGA,AGG	R560R	NP_001307570.1
NM_001320642.1	2275	Silent Mutation	AGA,AGG	R564R	NP_001307571.1
NM_004305.3	2275	Silent Mutation	AGA,AGG	R452R	NP_004296.1
NM_139343.2	2275	Silent Mutation	AGA,AGG	R591R	NP_647593.1
NM_139344.2	2275	Silent Mutation	AGA,AGG	R548R	NP_647594.1
NM_139345.2	2275	Silent Mutation	AGA,AGG	R504R	NP_647595.1
NM_139346.2	2275	Silent Mutation	AGA,AGG	R495R	NP_647596.1
NM_139347.2	2275	Silent Mutation	AGA,AGG	R516R	NP_647597.1
NM_139348.2	2275	Silent Mutation	AGA,AGG	R480R	NP_647598.1
NM_139349.2	2275	Silent Mutation	AGA,AGG	R473R	NP_647599.1
NM_139350.2	2275	Silent Mutation	AGA,AGG	R437R	NP_647600.1
NM_139351.2	2275	Silent Mutation	AGA,AGG	R407R	NP_647601.1
XM_005263642.3	2275	Silent Mutation	AGA,AGG	R606R	XP_005263699.1
XM_005263643.3	2275	Silent Mutation	AGA,AGG	R575R	XP_005263700.1
XM_005263645.2	2275	Silent Mutation	AGA,AGG	R551R	XP_005263702.1
XM_006712425.3	2275	Silent Mutation	AGA,AGG	R562R	XP_006712488.1
XM_006712426.3	2275	Silent Mutation	AGA,AGG	R562R	XP_006712489.1
XM_006712427.2	2275	Silent Mutation	AGA,AGG	R536R	XP_006712490.1
XM_006712428.3	2275	Silent Mutation	AGA,AGG	R526R	XP_006712491.1
XM_006712429.3	2275	Silent Mutation	AGA,AGG	R519R	XP_006712492.1
XM_006712431.3	2275	Silent Mutation	AGA,AGG	R496R	XP_006712494.1
XM_006712432.3	2275	Silent Mutation	AGA,AGG	R483R	XP_006712495.1
XM_006712433.3	2275	Silent Mutation	AGA,AGG	R453R	XP_006712496.1
XM_006712434.3	2275	Silent Mutation	AGA,AGG	R438R	XP_006712497.1
XM_011510975.2	2275	Silent Mutation	AGA,AGG	R579R	XP_011509277.1
XM_017003819.1	2275	Silent Mutation	AGA,AGG	R582R	XP_016859308.1
XM_017003820.1	2275	Silent Mutation	AGA,AGG	R516R	XP_016859309.1
XM_017003821.1	2275	Silent Mutation	AGA,AGG	R481R	XP_016859310.1
XM_017003822.1	2275	Silent Mutation	AGA,AGG	R450R	XP_016859311.1
XM_017003823.1	2275	Silent Mutation	AGA,AGG	R449R	XP_016859312.1
XM_017003824.1	2275	Silent Mutation	AGA,AGG	R426R	XP_016859313.1
XM_017003825.1	2275	Silent Mutation	AGA,AGG	R414R	XP_016859314.1
XM_017003826.1	2275	Silent Mutation	AGA,AGG	R413R	XP_016859315.1
XM_017003827.1	2275	Silent Mutation	AGA,AGG	R382R	XP_016859316.1
XM_017003828.1	2275	Silent Mutation	AGA,AGG	R367R	XP_016859317.1

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