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CTCAGGCAGGTTGAGGGGGAGCGAG[C/T]TAGGTCTGGGGCGACAAGGCCTTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615944 MIM: 602044 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C2CD3 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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C2CD3 - C2 calcium dependent domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286577.1 | 7106 | Missense Mutation | AAC,AGC | N,S 2327 | NP_001273506.1 | |
NM_015531.5 | 7106 | Intron | NP_056346.3 | |||
XM_011544904.1 | 7106 | Missense Mutation | AAC,AGC | N,S 2337 | XP_011543206.1 | |
XM_011544905.1 | 7106 | Intron | XP_011543207.1 | |||
XM_017017510.1 | 7106 | Intron | XP_016872999.1 | |||
XM_017017511.1 | 7106 | Missense Mutation | AAC,AGC | N,S 2144 | XP_016873000.1 | |
XM_017017512.1 | 7106 | Missense Mutation | AAC,AGC | N,S 1814 | XP_016873001.1 | |
XM_017017513.1 | 7106 | Missense Mutation | AAC,AGC | N,S 1696 | XP_016873002.1 | |
XM_017017514.1 | 7106 | Intron | XP_016873003.1 | |||
XM_017017515.1 | 7106 | Missense Mutation | AAC,AGC | N,S 1435 | XP_016873004.1 | |
XM_017017516.1 | 7106 | Missense Mutation | AAC,AGC | N,S 1395 | XP_016873005.1 |
UCP3 - uncoupling protein 3 | ||||||
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There are no transcripts associated with this gene. |