Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCACTCACTGCTGATGAGAAGTACA[A/G]ACGGGAGAATGCTGCCAAGTTACGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 614677 MIM: 603892 MIM: 137780 | ||||||||||||||||||||
Literature Links: |
CCDC103 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
CCDC103 - coiled-coil domain containing 103 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258395.1 | 221 | Missense Mutation | AAA,AGA | K,R 27 | NP_001245324.1 | |
NM_001258396.1 | 221 | Missense Mutation | AAA,AGA | K,R 27 | NP_001245325.1 | |
NM_001258397.1 | 221 | Missense Mutation | AAA,AGA | K,R 27 | NP_001245326.1 | |
NM_001258398.1 | 221 | Missense Mutation | AAA,AGA | K,R 27 | NP_001245327.1 | |
NM_001258399.1 | 221 | Missense Mutation | AAA,AGA | K,R 27 | NP_001245328.1 | |
NM_213607.2 | 221 | Missense Mutation | AAA,AGA | K,R 27 | NP_998772.1 |
EFTUD2 - elongation factor Tu GTP binding domain containing 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
GFAP - glial fibrillary acidic protein | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |