Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607335 MIM: 607824 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
BEST2 PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
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Global
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Caucasian - Not Available | CEPH (CEU)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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BEST2 - bestrophin 2 | ||||||
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There are no transcripts associated with this gene. |
HOOK2 - hook microtubule-tethering protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001100176.1 | 1605 | Missense Mutation | CAC,CAG | H,Q 488 | NP_001093646.1 | |
NM_013312.2 | 1605 | Missense Mutation | CAC,CAG | H,Q 488 | NP_037444.2 | |
XM_005259873.2 | 1605 | Missense Mutation | CAC,CAG | H,Q 488 | XP_005259930.1 | |
XM_005259874.2 | 1605 | Missense Mutation | CAC,CAG | H,Q 488 | XP_005259931.1 | |
XM_005259876.4 | 1605 | Missense Mutation | CAC,CAG | H,Q 415 | XP_005259933.1 | |
XM_005259877.4 | 1605 | Missense Mutation | CAC,CAG | H,Q 415 | XP_005259934.1 | |
XM_011527943.2 | 1605 | Missense Mutation | CAC,CAG | H,Q 415 | XP_011526245.1 | |
XM_011527944.2 | 1605 | Missense Mutation | CAC,CAG | H,Q 415 | XP_011526246.1 | |
XM_011527945.2 | 1605 | Missense Mutation | CAC,CAG | H,Q 415 | XP_011526247.1 | |
XM_011527946.2 | 1605 | Missense Mutation | CAC,CAG | H,Q 415 | XP_011526248.1 | |
XM_011527947.2 | 1605 | Missense Mutation | CAC,CAG | H,Q 353 | XP_011526249.1 | |
XM_017026720.1 | 1605 | Missense Mutation | CAC,CAG | H,Q 415 | XP_016882209.1 | |
XM_017026721.1 | 1605 | Missense Mutation | CAC,CAG | H,Q 415 | XP_016882210.1 |
Set Membership: |
HapMap |