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TGGTCGCTATAGTGGGTGTACTGGA[C/T]GTGGTCAGGGAACGGCGGCAGCGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 610513 MIM: 615776 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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There are no transcripts associated with this gene. |
CROCC - ciliary rootlet coiled-coil, rootletin | ||||||
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There are no transcripts associated with this gene. |
MFAP2 - microfibrillar associated protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135247.1 | 208 | Missense Mutation | ATC,GTC | I,V 32 | NP_001128719.1 | |
NM_001135248.1 | 208 | Missense Mutation | ATC,GTC | I,V 32 | NP_001128720.1 | |
NM_002403.3 | 208 | Missense Mutation | ATC,GTC | I,V 33 | NP_002394.1 | |
NM_017459.2 | 208 | Missense Mutation | ATC,GTC | I,V 33 | NP_059453.1 | |
XM_011541476.2 | 208 | Missense Mutation | ATC,GTC | I,V 33 | XP_011539778.1 |