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CGGCTCATGCCCCGCCTGGCCTTGG[C/T]TGCGCTCCGGAATTCTTGGGTCGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610343 MIM: 608879 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C2CD4A 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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C2CD4A - C2 calcium dependent domain containing 4A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_207322.2 | 326 | Missense Mutation | GCT,GTT | A,V 62 | NP_997205.2 |
LOC101928907 - uncharacterized LOC101928907 | ||||||
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There are no transcripts associated with this gene. |
VPS13C - vacuolar protein sorting 13 homolog C | ||||||
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There are no transcripts associated with this gene. |