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TCCTCAGATGTTTTCTTCTTCCCAG[C/T]GGGCTCTTCCAGCTTGGATACGTAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 191845 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PDILT 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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PDILT - protein disulfide isomerase like, testis expressed | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_174924.1 | 1062 | Missense Mutation | CCT,TCT | P,S 552 | NP_777584.1 | |
XM_011545764.1 | 1062 | Intron | XP_011544066.1 | |||
XM_011545765.1 | 1062 | Intron | XP_011544067.1 | |||
XM_011545766.2 | 1062 | Missense Mutation | CCT,TCT | P,S 278 | XP_011544068.1 |
UMOD - uromodulin | ||||||
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There are no transcripts associated with this gene. |