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CGGGGGCAGCAGCGCAATGAGGGGC[A/G]TCTCGCACTCCCCCAGCAGCACATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 602943 MIM: 615653 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C2CD4D 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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C2CD4D - C2 calcium dependent domain containing 4D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001136003.1 | 2029 | Missense Mutation | ACG,ATG | T,M 327 | NP_001129475.1 | |
XM_011509055.2 | 2029 | Missense Mutation | ACG,ATG | T,M 327 | XP_011507357.1 | |
XM_016999989.1 | 2029 | Missense Mutation | ACG,ATG | T,M 327 | XP_016855478.1 |
LOC100132111 - uncharacterized LOC100132111 | ||||||
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There are no transcripts associated with this gene. |
RORC - RAR related orphan receptor C | ||||||
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There are no transcripts associated with this gene. |
THEM5 - thioesterase superfamily member 5 | ||||||
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There are no transcripts associated with this gene. |