Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTGGGCCGGAGGCGGCGCAGGCAGG[C/T]GGGGAGGCACTGGTCTAGCACGCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
18 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) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
ATP13A2 - ATPase 13A2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001141973.2 | 3467 | Missense Mutation | ACC,GCC | T,A 1139 | NP_001135445.1 | |
NM_001141974.2 | 3467 | Missense Mutation | CAC,CGC | H,R 1043 | NP_001135446.1 | |
NM_022089.3 | 3467 | Missense Mutation | ACC,GCC | T,A 1144 | NP_071372.1 | |
XM_005245810.1 | 3467 | Missense Mutation | CAC,CGC | H,R 1086 | XP_005245867.1 | |
XM_005245811.1 | 3467 | Missense Mutation | CAC,CGC | H,R 1082 | XP_005245868.1 | |
XM_005245812.1 | 3467 | Missense Mutation | CAC,CGC | H,R 1078 | XP_005245869.1 | |
XM_005245815.1 | 3467 | Missense Mutation | CAC,CGC | H,R 1048 | XP_005245872.1 | |
XM_006710512.1 | 3467 | Missense Mutation | CAC,CGC | H,R 1081 | XP_006710575.1 | |
XM_006710513.1 | 3467 | Missense Mutation | CAC,CGC | H,R 1073 | XP_006710576.1 | |
XM_011541128.1 | 3467 | Missense Mutation | CAC,CGC | H,R 1082 | XP_011539430.1 | |
XM_011541129.1 | 3467 | Missense Mutation | CAC,CGC | H,R 1018 | XP_011539431.1 | |
XM_017000844.1 | 3467 | Missense Mutation | ACC,GCC | T,A 1139 | XP_016856333.1 | |
XM_017000845.1 | 3467 | Missense Mutation | ACC,GCC | T,A 1138 | XP_016856334.1 | |
XM_017000846.1 | 3467 | Missense Mutation | ACC,GCC | T,A 1130 | XP_016856335.1 | |
XM_017000847.1 | 3467 | Missense Mutation | ACC,GCC | T,A 1129 | XP_016856336.1 | |
XM_017000848.1 | 3467 | Missense Mutation | ACC,GCC | T,A 1105 | XP_016856337.1 | |
XM_017000849.1 | 3467 | Missense Mutation | ACC,GCC | T,A 1100 | XP_016856338.1 | |
XM_017000850.1 | 3467 | Missense Mutation | ACC,GCC | T,A 1075 | XP_016856339.1 |
MFAP2 - microfibrillar associated protein 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |