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AGGAAGCTATGGGGAGGAAGAAGAG[C/G]AGCCAGCGATCGAGGATGTGCAGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 606419 MIM: 609519 | ||||||||||||||||||||
Literature Links: |
PRPF31 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 |
PRPF31 - pre-mRNA processing factor 31 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015629.3 | 481 | Missense Mutation | CAG,GAG | Q,E 29 | NP_056444.3 | |
XM_006723137.3 | 481 | Missense Mutation | CAG,GAG | Q,E 29 | XP_006723200.1 |
TFPT - TCF3 fusion partner | ||||||
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There are no transcripts associated with this gene. |