Product Details

SNP ID
rs897804
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:12766150 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGCGCGCGCGGTTGGCATCCTCCAG[C/G]TGGCGCTGCAGCTCCTCCTGCCGCT
Phenotype
MIM: 607335 MIM: 607824
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
BEST2 PubMed Links

Gene Details

Gene
BEST2
Gene Name
bestrophin 2
There are no transcripts associated with this gene.

Gene
HOOK2
Gene Name
hook microtubule-tethering protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001100176.1 1605 Missense Mutation CAC,CAG H488Q NP_001093646.1
NM_013312.2 1605 Missense Mutation CAC,CAG H488Q NP_037444.2
XM_005259873.2 1605 Missense Mutation CAC,CAG H488Q XP_005259930.1
XM_005259874.2 1605 Missense Mutation CAC,CAG H488Q XP_005259931.1
XM_005259876.4 1605 Missense Mutation CAC,CAG H415Q XP_005259933.1
XM_005259877.4 1605 Missense Mutation CAC,CAG H415Q XP_005259934.1
XM_011527943.2 1605 Missense Mutation CAC,CAG H415Q XP_011526245.1
XM_011527944.2 1605 Missense Mutation CAC,CAG H415Q XP_011526246.1
XM_011527945.2 1605 Missense Mutation CAC,CAG H415Q XP_011526247.1
XM_011527946.2 1605 Missense Mutation CAC,CAG H415Q XP_011526248.1
XM_011527947.2 1605 Missense Mutation CAC,CAG H353Q XP_011526249.1
XM_017026720.1 1605 Missense Mutation CAC,CAG H415Q XP_016882209.1
XM_017026721.1 1605 Missense Mutation CAC,CAG H415Q XP_016882210.1

View Full Product Details