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