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CTCACCCTGGTCCCTAGGCTTGCCG[C/T]AGCTGATGGGTCTCATAGTCCTCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600310 MIM: 607536 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COMP 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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COMP - cartilage oligomeric matrix protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000095.2 | 2298 | Silent Mutation | CTA,CTG | L,L 754 | NP_000086.2 |
CRTC1 - CREB regulated transcription coactivator 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098482.1 | 2298 | Intron | NP_001091952.1 | |||
NM_015321.2 | 2298 | Intron | NP_056136.2 | |||
XM_005259833.3 | 2298 | Intron | XP_005259890.1 | |||
XM_005259834.1 | 2298 | Intron | XP_005259891.1 | |||
XM_005259835.3 | 2298 | Intron | XP_005259892.1 | |||
XM_005259836.3 | 2298 | Intron | XP_005259893.1 | |||
XM_006722710.3 | 2298 | Intron | XP_006722773.1 | |||
XM_011527842.2 | 2298 | Intron | XP_011526144.1 | |||
XM_017026536.1 | 2298 | Intron | XP_016882025.1 | |||
XM_017026537.1 | 2298 | Intron | XP_016882026.1 | |||
XM_017026538.1 | 2298 | Intron | XP_016882027.1 |