Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGGAGGTCCCTTTGGCTTAGCCACC[A/G]CCACCACCACCTCCTCAGATGTTTT
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 |
---|---|---|
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 |
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 | 1099 | Missense Mutation | GCG,GTG | A,V 564 | NP_777584.1 | |
XM_011545764.1 | 1099 | Intron | XP_011544066.1 | |||
XM_011545765.1 | 1099 | Intron | XP_011544067.1 | |||
XM_011545766.2 | 1099 | Missense Mutation | GCG,GTG | A,V 290 | XP_011544068.1 |
UMOD - uromodulin | ||||||
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There are no transcripts associated with this gene. |