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CGGAGAATCTGAGCAGAGGAGCCCC[A/G]CCTGTGGACGCGTGTGTGGCACCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603191 MIM: 171860 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C21orf2 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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C21orf2 - chromosome 21 open reading frame 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271440.1 | 1173 | Intron | NP_001258369.1 | |||
NM_001271441.1 | 1173 | Missense Mutation | GCG,GTG | A,V 322 | NP_001258370.1 | |
NM_001271442.1 | 1173 | Intron | NP_001258371.1 | |||
NM_004928.2 | 1173 | Intron | NP_004919.1 | |||
XM_006724051.3 | 1173 | Intron | XP_006724114.1 | |||
XM_006724053.3 | 1173 | Intron | XP_006724116.1 | |||
XM_017028470.1 | 1173 | Intron | XP_016883959.1 | |||
XM_017028471.1 | 1173 | Intron | XP_016883960.1 | |||
XM_017028472.1 | 1173 | Intron | XP_016883961.1 |
PFKL - phosphofructokinase, liver type | ||||||
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There are no transcripts associated with this gene. |