Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AATTTCTTACTTTAATTGGCTCAGG[C/G]TGCATCACAGGCGCAGGCATAGTGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606165 | ||||||||||||||||||||
Literature Links: |
BOLL 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 |
BOLL - boule homolog, RNA binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284358.1 | 1486 | Missense Mutation | CAC,CAG | H,Q 162 | NP_001271287.1 | |
NM_001284361.1 | 1486 | Missense Mutation | CAC,CAG | H,Q 299 | NP_001271290.1 | |
NM_001284362.1 | 1486 | Missense Mutation | CAC,CAG | H,Q 277 | NP_001271291.1 | |
NM_033030.5 | 1486 | Missense Mutation | CAC,CAG | H,Q 271 | NP_149019.1 | |
NM_197970.2 | 1486 | Missense Mutation | CAC,CAG | H,Q 283 | NP_932074.1 | |
XM_006712715.3 | 1486 | UTR 3 | XP_006712778.1 | |||
XM_011511692.2 | 1486 | Missense Mutation | CAC,CAG | H,Q 305 | XP_011509994.1 | |
XM_011511693.2 | 1486 | UTR 3 | XP_011509995.1 | |||
XM_011511694.2 | 1486 | Missense Mutation | CAC,CAG | H,Q 293 | XP_011509996.1 | |
XM_017004773.1 | 1486 | Intron | XP_016860262.1 |