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AGGACGGTGCTGGTCGTGTGTGGCC[C/T]GGAGCAGAACGGGGCAGTGGGGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612419 MIM: 609435 | ||||||||||||||||||||||||||||||||||||||
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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There are no transcripts associated with this gene. |
NDUFA13 - NADH:ubiquinone oxidoreductase subunit A13 | ||||||
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There are no transcripts associated with this gene. |
YJEFN3 - YjeF N-terminal domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190328.1 | 497 | Missense Mutation | CCG,CTG | P,L 76 | NP_001177257.1 | |
NM_198537.3 | 497 | Missense Mutation | CCG,CTG | P,L 126 | NP_940939.2 | |
XM_005259903.4 | 497 | Missense Mutation | CCG,CTG | P,L 199 | XP_005259960.1 | |
XM_011527996.2 | 497 | Intron | XP_011526298.1 | |||
XM_011527997.1 | 497 | Missense Mutation | CCG,CTG | P,L 21 | XP_011526299.1 | |
XM_011527998.2 | 497 | Missense Mutation | CCG,CTG | P,L 21 | XP_011526300.1 | |
XM_011527999.1 | 497 | Missense Mutation | CCG,CTG | P,L 21 | XP_011526301.1 | |
XM_017026770.1 | 497 | Missense Mutation | CCG,CTG | P,L 79 | XP_016882259.1 | |
XM_017026771.1 | 497 | Missense Mutation | CCG,CTG | P,L 21 | XP_016882260.1 |