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GCGGCGGTATCGCTCCTCCATGGCC[C/T]GCAAGTCCGCGTCCTTCTTCTGCAA
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) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
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 | 1922 | Missense Mutation | CAG,CGG | Q,R 592 | NP_001093646.1 | |
NM_013312.2 | 1922 | Missense Mutation | CAG,CGG | Q,R 594 | NP_037444.2 | |
XM_005259873.2 | 1922 | Missense Mutation | CAG,CGG | Q,R 593 | XP_005259930.1 | |
XM_005259874.2 | 1922 | Missense Mutation | CAG,CGG | Q,R 591 | XP_005259931.1 | |
XM_005259876.4 | 1922 | Missense Mutation | CAG,CGG | Q,R 521 | XP_005259933.1 | |
XM_005259877.4 | 1922 | Missense Mutation | CAG,CGG | Q,R 521 | XP_005259934.1 | |
XM_011527943.2 | 1922 | Missense Mutation | CAG,CGG | Q,R 521 | XP_011526245.1 | |
XM_011527944.2 | 1922 | Missense Mutation | CAG,CGG | Q,R 521 | XP_011526246.1 | |
XM_011527945.2 | 1922 | Missense Mutation | CAG,CGG | Q,R 521 | XP_011526247.1 | |
XM_011527946.2 | 1922 | Missense Mutation | CAG,CGG | Q,R 521 | XP_011526248.1 | |
XM_011527947.2 | 1922 | Missense Mutation | CAG,CGG | Q,R 459 | XP_011526249.1 | |
XM_017026720.1 | 1922 | Missense Mutation | CAG,CGG | Q,R 521 | XP_016882209.1 | |
XM_017026721.1 | 1922 | Missense Mutation | CAG,CGG | Q,R 519 | XP_016882210.1 |