Product Details

SNP ID
rs17106842
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:69645767 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ACCGATTGAAGTGATATATATAAAA[C/T]ACCAGGCACATCCTAAGTACCCAAT
Phenotype
MIM: 607337
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BEST3 PubMed Links

Gene Details

Gene
BEST3
Gene Name
bestrophin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282613.1 Intron NP_001269542.1
NM_001282614.1 Intron NP_001269543.1
NM_001282615.1 Intron NP_001269544.1
NM_001282616.1 Intron NP_001269545.1
NM_032735.2 Intron NP_116124.2
NM_152439.3 Intron NP_689652.2
XM_006719256.3 Intron XP_006719319.1
XM_011537961.1 Intron XP_011536263.1
XM_011537962.2 Intron XP_011536264.1
XM_011537963.1 Intron XP_011536265.1
XM_011537965.2 Intron XP_011536267.1
XM_017018865.1 Intron XP_016874354.1

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