Product Details

SNP ID
rs972353
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:61950243 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TTCTGAGCAGATTACAAGAAGGGAC[C/T]AAGACAAGGACTCCTTTGTGGAGGT
Phenotype
MIM: 607854
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BEST1 PubMed Links

Gene Details

Gene
BEST1
Gene Name
bestrophin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001139443.1 470 UTR 5 NP_001132915.1
NM_001300786.1 470 UTR 5 NP_001287715.1
NM_001300787.1 470 UTR 5 NP_001287716.1
NM_004183.3 470 UTR 5 NP_004174.1
XM_005274210.3 470 UTR 5 XP_005274267.1
XM_005274215.3 470 Intron XP_005274272.1
XM_005274216.3 470 UTR 5 XP_005274273.1
XM_005274219.3 470 UTR 5 XP_005274276.1
XM_005274221.3 470 UTR 5 XP_005274278.1
XM_011545229.2 470 Intron XP_011543531.1
XM_011545230.2 470 Intron XP_011543532.1
XM_011545233.2 470 Intron XP_011543535.1
XM_017018228.1 470 Intron XP_016873717.1
XM_017018229.1 470 UTR 5 XP_016873718.1
XM_017018230.1 470 Intron XP_016873719.1
Gene
RAB3IL1
Gene Name
RAB3A interacting protein like 1
There are no transcripts associated with this gene.

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