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CACAATGGGGAGGACAACTTCGCCC[A/G]GGACTTCATGGTGAGTCTCTCCCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600079 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PTPN12 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PTPN12 - protein tyrosine phosphatase, non-receptor type 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001131008.1 | 180 | Intron | NP_001124480.1 | |||
NM_001131009.1 | 180 | Intron | NP_001124481.1 | |||
NM_002835.3 | 180 | Missense Mutation | CAG,CGG | Q,R 30 | NP_002826.3 | |
XM_005250518.2 | 180 | UTR 5 | XP_005250575.1 | |||
XM_006716073.3 | 180 | Missense Mutation | CAG,CGG | Q,R 30 | XP_006716136.1 | |
XM_011516444.1 | 180 | UTR 5 | XP_011514746.1 | |||
XM_017012474.1 | 180 | Intron | XP_016867963.1 |