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GTACATGATGACTGGCAGTTGGTAG[C/T]AGGTTGCTGAGATGACACCACTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C2CD5 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
|
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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C2CD5 - C2 calcium dependent domain containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286173.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1039 | NP_001273102.1 | |
NM_001286174.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1037 | NP_001273103.1 | |
NM_001286175.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1040 | NP_001273104.1 | |
NM_001286176.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1037 | NP_001273105.1 | |
NM_001286177.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1028 | NP_001273106.1 | |
NM_014802.2 | 2380 | Missense Mutation | ACT,GCT | T,A 986 | NP_055617.1 | |
XM_005253538.2 | 2380 | Missense Mutation | ACT,GCT | T,A 977 | XP_005253595.1 | |
XM_005253539.3 | 2380 | Missense Mutation | ACT,GCT | T,A 659 | XP_005253596.1 | |
XM_006719170.2 | 2380 | Missense Mutation | ACT,GCT | T,A 1003 | XP_006719233.1 | |
XM_017020264.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1147 | XP_016875753.1 | |
XM_017020265.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1137 | XP_016875754.1 | |
XM_017020266.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1130 | XP_016875755.1 | |
XM_017020267.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1123 | XP_016875756.1 | |
XM_017020268.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1101 | XP_016875757.1 | |
XM_017020269.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1096 | XP_016875758.1 | |
XM_017020270.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1083 | XP_016875759.1 | |
XM_017020271.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1074 | XP_016875760.1 | |
XM_017020272.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1050 | XP_016875761.1 | |
XM_017020273.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1033 | XP_016875762.1 | |
XM_017020274.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1027 | XP_016875763.1 | |
XM_017020275.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1023 | XP_016875764.1 | |
XM_017020276.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1018 | XP_016875765.1 | |
XM_017020277.1 | 2380 | Missense Mutation | ACT,GCT | T,A 1011 | XP_016875766.1 | |
XM_017020278.1 | 2380 | Missense Mutation | ACT,GCT | T,A 999 | XP_016875767.1 | |
XM_017020279.1 | 2380 | Missense Mutation | ACT,GCT | T,A 765 | XP_016875768.1 |