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GGACTTTTTTGAACAGCAGAAATCA[C/T]ATCTCCATTTTTAATTGTGGTACTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609803 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANKAR 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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OSGEPL1 - O-sialoglycoprotein endopeptidase-like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022353.2 | 1359 | Missense Mutation | ATA,ATG | I,M 414 | NP_071748.2 | |
XM_005246766.3 | 1359 | Missense Mutation | ATA,ATG | I,M 414 | XP_005246823.1 | |
XM_006712685.1 | 1359 | Missense Mutation | ATA,ATG | I,M 414 | XP_006712748.1 | |
XM_006712686.1 | 1359 | Missense Mutation | ATA,ATG | I,M 267 | XP_006712749.1 | |
XM_011511631.1 | 1359 | Missense Mutation | ATA,ATG | I,M 414 | XP_011509933.1 | |
XM_017004676.1 | 1359 | Missense Mutation | ATA,ATG | I,M 414 | XP_016860165.1 | |
XM_017004677.1 | 1359 | Missense Mutation | ATA,ATG | I,M 414 | XP_016860166.1 | |
XM_017004678.1 | 1359 | Missense Mutation | ATA,ATG | I,M 414 | XP_016860167.1 | |
XM_017004679.1 | 1359 | Missense Mutation | ATA,ATG | I,M 414 | XP_016860168.1 | |
XM_017004680.1 | 1359 | Missense Mutation | ATA,ATG | I,M 414 | XP_016860169.1 | |
XM_017004681.1 | 1359 | Missense Mutation | ATA,ATG | I,M 267 | XP_016860170.1 | |
XM_017004682.1 | 1359 | Missense Mutation | ATA,ATG | I,M 267 | XP_016860171.1 | |
XM_017004683.1 | 1359 | Missense Mutation | ATA,ATG | I,M 267 | XP_016860172.1 | |
XM_017004684.1 | 1359 | Missense Mutation | ATA,ATG | I,M 267 | XP_016860173.1 | |
XM_017004685.1 | 1359 | Intron | XP_016860174.1 |