Product Details

SNP ID
rs142976690
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:20359373 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTTGCACTGGAGGTCCCTTTGG[C/T]TTAGCCACCACCACCACCACCTCCT
Phenotype
MIM: 191845
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PDILT PubMed Links

Gene Details

Gene
PDILT
Gene Name
protein disulfide isomerase like, testis expressed
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_174924.1 1109 Silent Mutation AAA,AAG K567K NP_777584.1
XM_011545764.1 1109 Intron XP_011544066.1
XM_011545765.1 1109 Intron XP_011544067.1
XM_011545766.2 1109 Silent Mutation AAA,AAG K293K XP_011544068.1
Gene
UMOD
Gene Name
uromodulin
There are no transcripts associated with this gene.

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