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Search Thermo Fisher Scientific
TTACGTCACTTCCGTAAACAAACGG[A/T]GCTGCGGAGGAGCGGGTCCCGGGAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615353 | ||||||||||||||||||||
Literature Links: |
CCDC28A PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CCDC28A - coiled-coil domain containing 28A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015439.2 | 262 | Missense Mutation | GAG,GTG | E,V 36 | NP_056254.1 | |
XM_011535728.2 | 262 | Missense Mutation | GAG,GTG | E,V 36 | XP_011534030.1 |
GVQW2 - GVQW motif containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242740.1 | 262 | Intron | NP_001229669.1 |