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CAGGCCATAGTGGTCAGAGTACAGC[C/T]GGCCCTGCAGGGGAGGGGCGTGGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613979 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PRPF6 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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PRPF6 - pre-mRNA processing factor 6 | ||||||
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There are no transcripts associated with this gene. |
SAMD10 - sterile alpha motif domain containing 10 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080621.4 | 453 | Missense Mutation | CAG,CGG | Q,R 93 | NP_542188.1 | |
XM_005260199.4 | 453 | Missense Mutation | CAG,CGG | Q,R 132 | XP_005260256.1 | |
XM_006723705.3 | 453 | Missense Mutation | CAG,CGG | Q,R 99 | XP_006723768.1 | |
XM_011528565.2 | 453 | Missense Mutation | CAG,CGG | Q,R 297 | XP_011526867.1 | |
XM_017027671.1 | 453 | Missense Mutation | CAG,CGG | Q,R 93 | XP_016883160.1 |
ZNF512B - zinc finger protein 512B | ||||||
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There are no transcripts associated with this gene. |