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GTGGTCAGTCAGCTCCCTACTCACC[A/G]TGGCTGGGCCAGGGTCAGGAAGTAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 610513 MIM: 156790 | ||||||||||||||||||||
Literature Links: |
ATP13A2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
ATP13A2 - ATPase 13A2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001141973.2 | 3289 | Missense Mutation | CGG,TGG | R,W 1023 | NP_001135445.1 | |
NM_001141974.2 | 3289 | Missense Mutation | CGG,TGG | R,W 984 | NP_001135446.1 | |
NM_022089.3 | 3289 | Missense Mutation | CGG,TGG | R,W 1028 | NP_071372.1 | |
XM_005245810.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1027 | XP_005245867.1 | |
XM_005245811.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1023 | XP_005245868.1 | |
XM_005245812.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1019 | XP_005245869.1 | |
XM_005245815.1 | 3289 | Missense Mutation | CGG,TGG | R,W 989 | XP_005245872.1 | |
XM_006710512.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1022 | XP_006710575.1 | |
XM_006710513.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1014 | XP_006710576.1 | |
XM_011541128.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1023 | XP_011539430.1 | |
XM_011541129.1 | 3289 | Missense Mutation | CGG,TGG | R,W 959 | XP_011539431.1 | |
XM_017000844.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1023 | XP_016856333.1 | |
XM_017000845.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1022 | XP_016856334.1 | |
XM_017000846.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1014 | XP_016856335.1 | |
XM_017000847.1 | 3289 | Missense Mutation | CGG,TGG | R,W 1013 | XP_016856336.1 | |
XM_017000848.1 | 3289 | Missense Mutation | CGG,TGG | R,W 989 | XP_016856337.1 | |
XM_017000849.1 | 3289 | Missense Mutation | CGG,TGG | R,W 984 | XP_016856338.1 | |
XM_017000850.1 | 3289 | Missense Mutation | CGG,TGG | R,W 959 | XP_016856339.1 |
MFAP2 - microfibrillar associated protein 2 | ||||||
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There are no transcripts associated with this gene. |