Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605689 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CPNE7 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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CPNE7 - copine 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014427.4 | 532 | Missense Mutation | CAA,CAC | Q,H 146 | NP_055242.1 | |
NM_153636.2 | 532 | Intron | NP_705900.1 | |||
XM_011523000.1 | 532 | Intron | XP_011521302.1 | |||
XM_011523001.2 | 532 | Intron | XP_011521303.1 | |||
XM_017023138.1 | 532 | Missense Mutation | CAA,CAC | Q,H 146 | XP_016878627.1 | |
XM_017023139.1 | 532 | Missense Mutation | CAA,CAC | Q,H 150 | XP_016878628.1 | |
XM_017023140.1 | 532 | Intron | XP_016878629.1 | |||
XM_017023141.1 | 532 | Intron | XP_016878630.1 |