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GAAGGCTGACGGCGTGTGCTCCACC[A/G]TGGCCGGCAGTCGGCCAGAGAACGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606587 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PTPN18 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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PTPN18 - protein tyrosine phosphatase, non-receptor type 18 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142370.1 | 197 | Intron | NP_001135842.1 | |||
NM_014369.3 | 197 | Missense Mutation | ATG,GTG | M,V 49 | NP_055184.2 | |
XM_006712416.3 | 197 | Intron | XP_006712479.1 | |||
XM_006712417.1 | 197 | Missense Mutation | ATG,GTG | M,V 49 | XP_006712480.1 | |
XM_017003798.1 | 197 | UTR 5 | XP_016859287.1 |