Product Details

SNP ID
rs145195435
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:14704811 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTAAAAGCAATCTCAGTTGTATG[C/G]CAAGTGTTTAAGCTTTACTTAAAGT
Phenotype
MIM: 605145 MIM: 615712
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ANKH PubMed Links

Gene Details

Gene
ANKH
Gene Name
ANKH inorganic pyrophosphate transport regulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_054027.4 8196 UTR 3 NP_473368.1
XM_011514067.1 8196 Intron XP_011512369.1
XM_017009644.1 8196 UTR 3 XP_016865133.1
Gene
LOC100130744
Gene Name
uncharacterized LOC100130744
There are no transcripts associated with this gene.

Gene
OTULIN
Gene Name
OTU deubiquitinase with linear linkage specificity
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138348.4 8196 Intron NP_612357.4
XM_011514151.2 8196 Intron XP_011512453.1
XM_011514152.2 8196 Intron XP_011512454.1
XM_011514154.2 8196 Intron XP_011512456.1
XM_017010015.1 8196 Intron XP_016865504.1

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