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CGTGGTGCTGGCACTGTCTGGGCCA[G/T]ATCCTGGGGAGCTGGCACCTGCCGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611205 | ||||||||||||||||||||
Literature Links: |
CCDC88B 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 |
CCDC88B - coiled-coil domain containing 88B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032251.5 | 639 | Missense Mutation | GAT,TAT | D,Y 193 | NP_115627.6 | |
XM_006718519.3 | 639 | Missense Mutation | GAT,TAT | D,Y 193 | XP_006718582.1 | |
XM_011544957.2 | 639 | Missense Mutation | GAT,TAT | D,Y 193 | XP_011543259.1 | |
XM_011544959.2 | 639 | Missense Mutation | GAT,TAT | D,Y 193 | XP_011543261.1 | |
XM_011544960.2 | 639 | Missense Mutation | GAT,TAT | D,Y 193 | XP_011543262.1 | |
XM_011544962.2 | 639 | Intron | XP_011543264.1 | |||
XM_017017601.1 | 639 | Missense Mutation | GAT,TAT | D,Y 193 | XP_016873090.1 |
MIR7155 - microRNA 7155 | ||||||
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There are no transcripts associated with this gene. |