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AGTTGGGTACTCACCGGGGCCCTTC[A/G]GGTCAGCCCGGGGCGGGGTCCCCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604881 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RPH3AL 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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RPH3AL - rabphilin 3A-like (without C2 domains) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190411.1 | 977 | Nonsense Mutation | CGA,TGA | R,* 289 | NP_001177340.1 | |
NM_001190412.1 | 977 | Nonsense Mutation | CGA,TGA | R,* 260 | NP_001177341.1 | |
NM_001190413.1 | 977 | Nonsense Mutation | CGA,TGA | R,* 260 | NP_001177342.1 | |
NM_006987.3 | 977 | Nonsense Mutation | CGA,TGA | R,* 289 | NP_008918.1 | |
XM_011535364.2 | 977 | Nonsense Mutation | CGA,TGA | R,* 295 | XP_011533666.1 | |
XM_011535365.2 | 977 | Nonsense Mutation | CGA,TGA | R,* 295 | XP_011533667.1 | |
XM_011535366.2 | 977 | Nonsense Mutation | CGA,TGA | R,* 295 | XP_011533668.1 | |
XM_011535367.2 | 977 | Nonsense Mutation | CGA,TGA | R,* 289 | XP_011533669.1 | |
XM_011535368.2 | 977 | Nonsense Mutation | CGA,TGA | R,* 260 | XP_011533670.1 | |
XM_011535369.2 | 977 | Nonsense Mutation | CGA,TGA | R,* 213 | XP_011533671.1 | |
XM_017025367.1 | 977 | Intron | XP_016880856.1 | |||
XM_017025368.1 | 977 | Intron | XP_016880857.1 | |||
XM_017025369.1 | 977 | Nonsense Mutation | CGA,TGA | R,* 213 | XP_016880858.1 | |
XM_017025370.1 | 977 | Nonsense Mutation | CGA,TGA | R,* 207 | XP_016880859.1 | |
XM_017025371.1 | 977 | Intron | XP_016880860.1 |