Product Details

SNP ID

rs7973633

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109027073 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGGCTTCAACATATACATTTGGGG[C/T]GGACACAAACATTCAGTCCTTAACT

Phenotype

MIM: 611699 MIM: 612492

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SVOP PubMed Links

Gene Details

Gene

SVOP

Gene Name

SV2 related protein

There are no transcripts associated with this gene.

Gene

USP30

Gene Name

ubiquitin specific peptidase 30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301175.1		Intron			NP_001288104.1
NM_032663.4		Intron			NP_116052.2
XM_005253962.3		Intron			XP_005254019.1
XM_005253965.4		Intron			XP_005254022.1
XM_006719653.3		Intron			XP_006719716.1
XM_011538894.2		Intron			XP_011537196.1
XM_017020048.1		Intron			XP_016875537.1
XM_017020049.1		Intron			XP_016875538.1
XM_017020050.1		Intron			XP_016875539.1
XM_017020051.1		Intron			XP_016875540.1
XM_017020052.1		Intron			XP_016875541.1
XM_017020053.1		Intron			XP_016875542.1
XM_017020054.1		Intron			XP_016875543.1

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