Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
44 submissions
|
||||||||||||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 610513 MIM: 156790 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP13A2 PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
---|---|---|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU)
|
||||||
EAS
|
African American - Not Available | YRI (Yoruba)
|
||||||
SAS
|
Chinese - Not Available | JPT (Japanese)
|
||||||
AFR
|
Japanese - Not Available | CHB (Han Chinese)
|
||||||
EUR
|
||||||||
AMR
|
ATP13A2 - ATPase 13A2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001141973.2 | 3704 | UTR 3 | NP_001135445.1 | |||
NM_001141974.2 | 3704 | Missense Mutation | CCT,CTT | P,L 1122 | NP_001135446.1 | |
NM_022089.3 | 3704 | UTR 3 | NP_071372.1 | |||
XM_005245810.1 | 3704 | Missense Mutation | CCT,CTT | P,L 1165 | XP_005245867.1 | |
XM_005245811.1 | 3704 | Missense Mutation | CCT,CTT | P,L 1161 | XP_005245868.1 | |
XM_005245812.1 | 3704 | Missense Mutation | CCT,CTT | P,L 1157 | XP_005245869.1 | |
XM_005245815.1 | 3704 | Missense Mutation | CCT,CTT | P,L 1127 | XP_005245872.1 | |
XM_006710512.1 | 3704 | Missense Mutation | CCT,CTT | P,L 1160 | XP_006710575.1 | |
XM_006710513.1 | 3704 | Missense Mutation | CCT,CTT | P,L 1152 | XP_006710576.1 | |
XM_011541128.1 | 3704 | Missense Mutation | CCT,CTT | P,L 1161 | XP_011539430.1 | |
XM_011541129.1 | 3704 | Missense Mutation | CCT,CTT | P,L 1097 | XP_011539431.1 | |
XM_017000844.1 | 3704 | UTR 3 | XP_016856333.1 | |||
XM_017000845.1 | 3704 | UTR 3 | XP_016856334.1 | |||
XM_017000846.1 | 3704 | UTR 3 | XP_016856335.1 | |||
XM_017000847.1 | 3704 | UTR 3 | XP_016856336.1 | |||
XM_017000848.1 | 3704 | UTR 3 | XP_016856337.1 | |||
XM_017000849.1 | 3704 | UTR 3 | XP_016856338.1 | |||
XM_017000850.1 | 3704 | UTR 3 | XP_016856339.1 |
MFAP2 - microfibrillar associated protein 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |