Product Details

SNP ID

rs146265742

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50439125 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAACTCTACCTCAGTTCTTCACTA[A/G]AAGACCTTAATAAGAAGACAGAAGT

Phenotype

MIM: 603158

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

USP8 PubMed Links

Additional Information

For this assay, SNP(s) [rs11632708] 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

USP8

Gene Name

ubiquitin specific peptidase 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128610.2	238	Missense Mutation	AAA,GAA	K18E	NP_001122082.1
NM_001283049.1	238	Missense Mutation	AAA,GAA	K18E	NP_001269978.1
NM_005154.4	238	Missense Mutation	AAA,GAA	K18E	NP_005145.3
XM_006720761.3	238	Missense Mutation	AAA,GAA	K18E	XP_006720824.1
XM_006720762.3	238	Missense Mutation	AAA,GAA	K18E	XP_006720825.1
XM_011522193.2	238	Intron			XP_011520495.1
XM_017022718.1	238	Missense Mutation	AAA,GAA	K18E	XP_016878207.1
XM_017022719.1	238	Missense Mutation	AAA,GAA	K18E	XP_016878208.1
XM_017022720.1	238	Intron			XP_016878209.1
XM_017022721.1	238	UTR 5			XP_016878210.1
XM_017022722.1	238	UTR 5			XP_016878211.1

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