Product Details

SNP ID

rs201107955

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:21690058 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTTAAAATCTTTCCATCAATTGA[C/T]AAATTCTGGTCAAAAGGAGCAACTG

Phenotype

Polymorphism

C/T, Transition 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	3723	Intron			NP_001027902.1
XM_005246009.2	3723	Silent Mutation	TTA,TTG	L923L	XP_005246066.1
XM_006710951.2	3723	Silent Mutation	TTA,TTG	L973L	XP_006711014.2
XM_006710955.3	3723	Silent Mutation	TTA,TTG	L909L	XP_006711018.1
XM_011542262.2	3723	Silent Mutation	TTA,TTG	L974L	XP_011540564.1
XM_011542263.2	3723	Silent Mutation	TTA,TTG	L974L	XP_011540565.1
XM_011542264.1	3723	Silent Mutation	TTA,TTG	L908L	XP_011540566.1
XM_011542265.2	3723	Silent Mutation	TTA,TTG	L848L	XP_011540567.1
XM_011542267.2	3723	Silent Mutation	TTA,TTG	L561L	XP_011540569.1
XM_011542268.2	3723	Silent Mutation	TTA,TTG	L561L	XP_011540570.1
XM_017002495.1	3723	Silent Mutation	TTA,TTG	L908L	XP_016857984.1
XM_017002496.1	3723	Intron			XP_016857985.1
XM_017002497.1	3723	Silent Mutation	TTA,TTG	L561L	XP_016857986.1

View Full Product Details