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CTTGGAGCTGCAGCCCCCACTTGCC[A/G]ACATGGGAAGAGCGGAGCTTAGCTC
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 492 | Intron | NP_001177257.1 | |||
NM_198537.3 | 492 | Missense Mutation | AAC,GAC | N,D 30 | NP_940939.2 | |
XM_005259903.4 | 492 | Missense Mutation | AAC,GAC | N,D 103 | XP_005259960.1 | |
XM_011527996.2 | 492 | Missense Mutation | AAC,GAC | N,D 103 | XP_011526298.1 | |
XM_011527997.1 | 492 | Intron | XP_011526299.1 | |||
XM_011527998.2 | 492 | Intron | XP_011526300.1 | |||
XM_011527999.1 | 492 | UTR 5 | XP_011526301.1 | |||
XM_017026770.1 | 492 | Intron | XP_016882259.1 | |||
XM_017026771.1 | 492 | Intron | XP_016882260.1 |