Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAACTCTGTATTTTGGACTCCGGGG[A/G]TGGGGGATGGTCTCCCTTGTCATCG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607300 MIM: 607848 MIM: 607873 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
PRPF8 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)
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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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PRPF8 - pre-mRNA processing factor 8 | ||||||
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There are no transcripts associated with this gene. |
RILP - Rab interacting lysosomal protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031430.2 | 1297 | Missense Mutation | CCC,TCC | P,S 335 | NP_113618.2 | |
XM_005256811.1 | 1297 | Intron | XP_005256868.1 | |||
XM_017025195.1 | 1297 | Intron | XP_016880684.1 |
SCARF1 - scavenger receptor class F member 1 | ||||||
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There are no transcripts associated with this gene. |