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TTCACATACATACTCCTAACCTGTC[C/T]TCTATTTTGCTATGGCTTGACGTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607249 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CATSPER2 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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CATSPER2 - cation channel sperm associated 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282309.1 | 1388 | Silent Mutation | NP_001269238.1 | |||
NM_001282310.1 | 1388 | Silent Mutation | NP_001269239.1 | |||
NM_054020.3 | 1388 | Silent Mutation | NP_473361.1 | |||
NM_172095.2 | 1388 | Silent Mutation | NP_742093.1 | |||
XM_017021904.1 | 1388 | Missense Mutation | XP_016877393.1 |