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GACTGGGTCTCCAGTAGTCTCTGAG[A/G]AGCCGCTCGACCTTCTCCCGACCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604205 MIM: 603038 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CPNE1 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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CPNE1 - copine 1 | ||||||
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There are no transcripts associated with this gene. |
FER1L4 - fer-1 like family member 4, pseudogene | ||||||
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There are no transcripts associated with this gene. |
SPAG4 - sperm associated antigen 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317931.1 | 100 | Missense Mutation | AAG,GAG | K,E 35 | NP_001304860.1 | |
NM_003116.2 | 100 | Missense Mutation | AAG,GAG | K,E 112 | NP_003107.1 | |
XM_005260520.4 | 100 | Missense Mutation | AAG,GAG | K,E 19 | XP_005260577.1 | |
XM_011529009.2 | 100 | Missense Mutation | AAG,GAG | K,E 68 | XP_011527311.1 |