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GGCCTGCTGGAGCTGCGTCAGCAGC[A/G]GGGGCTCGTCCAGGTGTGTCTTTTA
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 |
---|---|---|
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 |
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 | 1015 | Silent Mutation | CCC,CCT | P,P 301 | NP_001177340.1 | |
NM_001190412.1 | 1015 | Silent Mutation | CCC,CCT | P,P 272 | NP_001177341.1 | |
NM_001190413.1 | 1015 | Silent Mutation | CCC,CCT | P,P 272 | NP_001177342.1 | |
NM_006987.3 | 1015 | Silent Mutation | CCC,CCT | P,P 301 | NP_008918.1 | |
XM_011535364.2 | 1015 | Silent Mutation | CCC,CCT | P,P 307 | XP_011533666.1 | |
XM_011535365.2 | 1015 | Silent Mutation | CCC,CCT | P,P 307 | XP_011533667.1 | |
XM_011535366.2 | 1015 | Silent Mutation | CCC,CCT | P,P 307 | XP_011533668.1 | |
XM_011535367.2 | 1015 | Silent Mutation | CCC,CCT | P,P 301 | XP_011533669.1 | |
XM_011535368.2 | 1015 | Silent Mutation | CCC,CCT | P,P 272 | XP_011533670.1 | |
XM_011535369.2 | 1015 | Silent Mutation | CCC,CCT | P,P 225 | XP_011533671.1 | |
XM_017025367.1 | 1015 | Missense Mutation | CGC,TGC | R,C 258 | XP_016880856.1 | |
XM_017025368.1 | 1015 | Missense Mutation | CGC,TGC | R,C 252 | XP_016880857.1 | |
XM_017025369.1 | 1015 | Silent Mutation | CCC,CCT | P,P 225 | XP_016880858.1 | |
XM_017025370.1 | 1015 | Silent Mutation | CCC,CCT | P,P 219 | XP_016880859.1 | |
XM_017025371.1 | 1015 | Intron | XP_016880860.1 |