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ATCCTCAGAGGATTCAGCTTTACCC[C/T]GATACCATAGGCCAAAGCTGGAGAG
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 | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
PRPF8 - pre-mRNA processing factor 8 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
RILP - Rab interacting lysosomal protein | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031430.2 | 1340 | Missense Mutation | NP_113618.2 | |||
XM_005256811.1 | 1340 | Missense Mutation | XP_005256868.1 | |||
XM_017025195.1 | 1340 | Silent Mutation | XP_016880684.1 |
SCARF1 - scavenger receptor class F member 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003693.3 | 1340 | Intron | NP_003684.2 | |||
NM_145350.2 | 1340 | Intron | NP_663325.1 | |||
XM_017025256.1 | 1340 | Intron | XP_016880745.1 |