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CCATACTGCCCCTCCACCTGCCAGC[A/G]GTCCCCGCCTTCCCTCACACCCACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603619 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C19orf71 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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C19orf71 - chromosome 19 open reading frame 71 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135580.1 | 617 | Missense Mutation | CAG,CGG | Q,R 199 | NP_001129052.1 | |
XM_011527596.2 | 617 | Missense Mutation | CAG,CGG | Q,R 146 | XP_011525898.1 |
FZR1 - fizzy/cell division cycle 20 related 1 | ||||||
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There are no transcripts associated with this gene. |
MFSD12 - major facilitator superfamily domain containing 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287529.1 | 617 | Intron | NP_001274458.1 | |||
NM_174983.4 | 617 | Intron | NP_778148.2 | |||
XM_005259490.4 | 617 | Intron | XP_005259547.1 | |||
XM_006722647.3 | 617 | Intron | XP_006722710.1 | |||
XM_011527684.2 | 617 | Intron | XP_011525986.1 | |||
XM_017026288.1 | 617 | Intron | XP_016881777.1 |