Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATCCAAACTCATGCTGATTTGGAAG[A/G]ACAGCGTGGCTCCAGGGTACAGCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 605893 MIM: 616667 | ||||||||||||||||||||
Literature Links: |
CDIPT 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 |
CDIPT - CDP-diacylglycerol--inositol 3-phosphatidyltransferase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286585.1 | 574 | Missense Mutation | TCC,TTC | S,F 48 | NP_001273514.1 | |
NM_001286586.1 | 574 | Missense Mutation | TCC,TTC | S,F 28 | NP_001273515.1 | |
NM_006319.4 | 574 | Missense Mutation | TCC,TTC | S,F 93 | NP_006310.1 | |
XM_005255038.4 | 574 | Missense Mutation | TCC,TTC | S,F 117 | XP_005255095.1 |
CDIPT-AS1 - CDIPT antisense RNA 1 (head to head) | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SEZ6L2 - seizure related 6 homolog like 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |