Product Details

SNP ID
hCV90500282
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:61951937 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTAATCTTCCTGCTCTGCTACT[A/C]CATCATCCGCTTTATTTATAGGTAA
Phenotype
MIM: 607854
Polymorphism
A/C, Transversion 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_001139443.1 711 Intron NP_001132915.1
NM_001300786.1 711 Intron NP_001287715.1
NM_001300787.1 711 Intron NP_001287716.1
NM_004183.3 711 Missense Mutation TAC,TCC Y44S NP_004174.1
Gene
RAB3IL1
Gene Name
RAB3A interacting protein like 1
There are no transcripts associated with this gene.

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