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GGCCCTGCCGTCCGCCGTCGGCGAG[C/T]GCGTGCACTTGAACCCCACGCGCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612419 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CILP2 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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CILP2 - cartilage intermediate layer protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153221.2 | 419 | Missense Mutation | CGC,TGC | R,C 112 | NP_694953.2 |
YJEFN3 - YjeF N-terminal domain containing 3 | ||||||
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There are no transcripts associated with this gene. |