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CTCCCATCTTGCGCAAGTTGGTCAC[A/G]TGGTCACCCAATTCTTTGATGGCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607854 MIM: 134770 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BEST1 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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BEST1 - bestrophin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001139443.1 | 691 | Intron | NP_001132915.1 | |||
NM_001300786.1 | 691 | Intron | NP_001287715.1 | |||
NM_001300787.1 | 691 | Intron | NP_001287716.1 | |||
NM_004183.3 | 691 | Intron | NP_004174.1 | |||
XM_005274210.3 | 691 | Intron | XP_005274267.1 | |||
XM_005274215.3 | 691 | Intron | XP_005274272.1 | |||
XM_005274216.3 | 691 | Intron | XP_005274273.1 | |||
XM_005274219.3 | 691 | Intron | XP_005274276.1 | |||
XM_005274221.3 | 691 | Intron | XP_005274278.1 | |||
XM_011545229.2 | 691 | Intron | XP_011543531.1 | |||
XM_011545230.2 | 691 | Intron | XP_011543532.1 | |||
XM_011545233.2 | 691 | Intron | XP_011543535.1 | |||
XM_017018228.1 | 691 | Intron | XP_016873717.1 | |||
XM_017018229.1 | 691 | Intron | XP_016873718.1 | |||
XM_017018230.1 | 691 | Intron | XP_016873719.1 |
FTH1 - ferritin heavy chain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002032.2 | 691 | Silent Mutation | CAC,CAT | H,H 152 | NP_002023.2 |
LOC399900 - uncharacterized LOC399900 | ||||||
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There are no transcripts associated with this gene. |