Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGAGTTACAATTCCTGTACTATCT[C/T]GCTCCATTGCTTGATGTTGTGAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 615929 MIM: 610428 | ||||||||||||||||||||
Literature Links: |
ANKRD17 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 |
ANKRD17 - ankyrin repeat domain 17 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286771.2 | 6882 | Missense Mutation | CAA,CGA | Q,R 2389 | NP_001273700.1 | |
NM_015574.1 | 6882 | Missense Mutation | CAA,CGA | Q,R 2501 | NP_056389.1 | |
NM_032217.4 | 6882 | Missense Mutation | CAA,CGA | Q,R 2502 | NP_115593.3 | |
NM_198889.2 | 6882 | Missense Mutation | CAA,CGA | Q,R 2251 | NP_942592.1 | |
XM_005265671.3 | 6882 | Missense Mutation | CAA,CGA | Q,R 2250 | XP_005265728.1 | |
XM_005265672.3 | 6882 | Intron | XP_005265729.1 | |||
XM_005265673.3 | 6882 | Intron | XP_005265730.1 | |||
XM_017008011.1 | 6882 | Missense Mutation | CAA,CGA | Q,R 2388 | XP_016863500.1 | |
XM_017008012.1 | 6882 | Missense Mutation | CAA,CGA | Q,R 2138 | XP_016863501.1 | |
XM_017008013.1 | 6882 | Missense Mutation | CAA,CGA | Q,R 2137 | XP_016863502.1 | |
XM_017008014.1 | 6882 | Intron | XP_016863503.1 | |||
XM_017008015.1 | 6882 | Intron | XP_016863504.1 | |||
XM_017008016.1 | 6882 | Intron | XP_016863505.1 | |||
XM_017008017.1 | 6882 | Intron | XP_016863506.1 |
COX18 - COX18, cytochrome c oxidase assembly factor | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |