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CCTGTATTTTCATCCTACAACAACA[C/T]GCTTGATTAAACATCCTTGCGAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605490 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CATSPERD 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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CATSPERD - cation channel sperm associated auxiliary subunit delta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152784.3 | 510 | Missense Mutation | CGC,TGC | R,C 53 | NP_689997.3 | |
XM_011527885.2 | 510 | Missense Mutation | CGC,TGC | R,C 53 | XP_011526187.1 | |
XM_011527886.2 | 510 | Missense Mutation | CGC,TGC | R,C 53 | XP_011526188.1 | |
XM_011527887.2 | 510 | Missense Mutation | CGC,TGC | R,C 53 | XP_011526189.1 | |
XM_011527888.2 | 510 | Missense Mutation | CGC,TGC | R,C 53 | XP_011526190.1 | |
XM_011527889.2 | 510 | Missense Mutation | CGC,TGC | R,C 53 | XP_011526191.1 | |
XM_011527890.2 | 510 | Missense Mutation | CGC,TGC | R,C 53 | XP_011526192.1 | |
XM_011527891.1 | 510 | Intron | XP_011526193.1 | |||
XM_011527892.1 | 510 | Intron | XP_011526194.1 | |||
XM_017026564.1 | 510 | Missense Mutation | CGC,TGC | R,C 53 | XP_016882053.1 | |
XM_017026565.1 | 510 | UTR 5 | XP_016882054.1 | |||
XM_017026566.1 | 510 | Missense Mutation | CGC,TGC | R,C 53 | XP_016882055.1 |
LONP1 - lon peptidase 1, mitochondrial | ||||||
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There are no transcripts associated with this gene. |