Product Details

SNP ID
rs201187995
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:20362415 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGAGCCCCTCACTTGTTGAGAGC[C/T]GCTGGGGAACAGCCTGAAGAATGGG
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_174924.1 813 Missense Mutation AGC,GGC S469G NP_777584.1
XM_011545764.1 813 Intron XP_011544066.1
XM_011545765.1 813 Intron XP_011544067.1
XM_011545766.2 813 Missense Mutation AGC,GGC S195G XP_011544068.1
Gene
UMOD
Gene Name
uromodulin
There are no transcripts associated with this gene.

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