Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTTCTCACCTATTTCAACCATCAAT[A/G]TGATCGTATTCAAAAAGACCAGGAA
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 |
---|---|---|
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 |
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 | 586 | Missense Mutation | NP_001269238.1 | |||
NM_001282310.1 | 586 | Missense Mutation | ACA,ATA | T,I 130 | NP_001269239.1 | |
NM_054020.3 | 586 | Missense Mutation | ACA,ATA | T,I 124 | NP_473361.1 | |
NM_172095.2 | 586 | Missense Mutation | ACA,ATA | T,I 124 | NP_742093.1 | |
XM_017021904.1 | 586 | Missense Mutation | ACA,ATA | T,I 124 | XP_016877393.1 |