Product Details

SNP ID

rs139302531

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:14710284 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCTTCAGTTCACTGTAAAAACT[A/G]AAATGCAAAGTTAGGATGCTCCATG

Phenotype

MIM: 605145 MIM: 615712

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ANKH PubMed Links

Additional Information

For this assay, SNP(s) [rs71603731] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	2723	UTR 3			NP_473368.1
XM_011514067.1	2723	Intron			XP_011512369.1
XM_017009644.1	2723	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	2723	Intron			NP_612357.4
XM_011514151.2	2723	Intron			XP_011512453.1
XM_011514152.2	2723	Intron			XP_011512454.1
XM_011514154.2	2723	Intron			XP_011512456.1
XM_017010015.1	2723	Intron			XP_016865504.1

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