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ATGACCATCACTTACACAAGCCAAG[T/C]GGCTAATGCCCGCTTAGGCTCCTTC
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 - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
BEST1 - bestrophin 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001139443.1 | 716 | Intron | NP_001132915.1 | |||
NM_001300786.1 | 716 | Intron | NP_001287715.1 | |||
NM_001300787.1 | 716 | Intron | NP_001287716.1 | |||
NM_004183.3 | 716 | Missense Mutation | GCG,GTG | A,V 9 | NP_004174.1 | |
XM_005274210.3 | 716 | Missense Mutation | GCG,GTG | A,V 9 | XP_005274267.1 | |
XM_005274215.3 | 716 | Intron | XP_005274272.1 | |||
XM_005274216.3 | 716 | Intron | XP_005274273.1 | |||
XM_005274219.3 | 716 | Missense Mutation | GCG,GTG | A,V 9 | XP_005274276.1 | |
XM_005274221.3 | 716 | Missense Mutation | GCG,GTG | A,V 9 | XP_005274278.1 | |
XM_011545229.2 | 716 | Missense Mutation | GCG,GTG | A,V 9 | XP_011543531.1 | |
XM_011545230.2 | 716 | Intron | XP_011543532.1 | |||
XM_011545233.2 | 716 | Intron | XP_011543535.1 | |||
XM_017018228.1 | 716 | Intron | XP_016873717.1 | |||
XM_017018229.1 | 716 | Missense Mutation | GCG,GTG | A,V 9 | XP_016873718.1 | |
XM_017018230.1 | 716 | Intron | XP_016873719.1 |
RAB3IL1 - RAB3A interacting protein like 1 | ||||||
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There are no transcripts associated with this gene. |