Product Details

SNP ID

rs79171291

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:21690023 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGACGCCAAGGGTGCCTAGGGTG[G/T]CACAGTCATCACTTAAAATCTTTCC

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

USP48 PubMed Links

Gene Details

Gene

USP48

Gene Name

ubiquitin specific peptidase 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001032730.1	3758	Intron			NP_001027902.1
XM_005246009.2	3758	Missense Mutation	GAC,GCC	D935A	XP_005246066.1
XM_006710951.2	3758	Missense Mutation	GAC,GCC	D985A	XP_006711014.2
XM_006710955.3	3758	Missense Mutation	GAC,GCC	D921A	XP_006711018.1
XM_011542262.2	3758	Missense Mutation	GAC,GCC	D986A	XP_011540564.1
XM_011542263.2	3758	Missense Mutation	GAC,GCC	D986A	XP_011540565.1
XM_011542264.1	3758	Missense Mutation	GAC,GCC	D920A	XP_011540566.1
XM_011542265.2	3758	Missense Mutation	GAC,GCC	D860A	XP_011540567.1
XM_011542267.2	3758	Missense Mutation	GAC,GCC	D573A	XP_011540569.1
XM_011542268.2	3758	Missense Mutation	GAC,GCC	D573A	XP_011540570.1
XM_017002495.1	3758	Missense Mutation	GAC,GCC	D920A	XP_016857984.1
XM_017002496.1	3758	Intron			XP_016857985.1
XM_017002497.1	3758	Missense Mutation	GAC,GCC	D573A	XP_016857986.1

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