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TTTGACTATGAATACGTACAGGCAG[G/A]AATCAGATTAGGCTCAGTTCTGGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607854 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BEST1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BEST1 - bestrophin 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001139443.1 | Intron | NP_001132915.1 | ||||
NM_001300786.1 | Intron | NP_001287715.1 | ||||
NM_001300787.1 | Intron | NP_001287716.1 | ||||
NM_004183.3 | Intron | NP_004174.1 | ||||
XM_005274210.3 | Intron | XP_005274267.1 | ||||
XM_005274215.3 | Intron | XP_005274272.1 | ||||
XM_005274216.3 | Intron | XP_005274273.1 | ||||
XM_005274219.3 | Intron | XP_005274276.1 | ||||
XM_005274221.3 | Intron | XP_005274278.1 | ||||
XM_011545229.2 | Intron | XP_011543531.1 | ||||
XM_011545230.2 | Intron | XP_011543532.1 | ||||
XM_011545233.2 | Intron | XP_011543535.1 | ||||
XM_017018228.1 | Intron | XP_016873717.1 | ||||
XM_017018229.1 | Intron | XP_016873718.1 | ||||
XM_017018230.1 | Intron | XP_016873719.1 |
RAB3IL1 - RAB3A interacting protein like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271686.1 | Intron | NP_001258615.1 | ||||
NM_013401.3 | Intron | NP_037533.2 | ||||
XM_005274140.4 | Intron | XP_005274197.1 | ||||
XM_006718647.3 | Intron | XP_006718710.1 | ||||
XM_011545196.2 | Intron | XP_011543498.1 | ||||
XM_011545197.2 | Intron | XP_011543499.1 | ||||
XM_011545198.2 | Intron | XP_011543500.1 | ||||
XM_011545199.2 | Intron | XP_011543501.1 | ||||
XM_011545200.2 | Intron | XP_011543502.1 | ||||
XM_011545201.2 | Intron | XP_011543503.1 |