Product Details

SNP ID

rs112537671

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:101327733 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCACTGCTATTGTCCTGTTTAGGA[A/G]CTTTAGGGCATAGATCCACCATGTT

Phenotype

MIM: 607056 MIM: 612846

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IMPG2 PubMed Links

Gene Details

Gene

IMPG2

Gene Name

interphotoreceptor matrix proteoglycan 2

There are no transcripts associated with this gene.

Gene

SENP7

Gene Name

SUMO1/sentrin specific peptidase 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077203.2	3048	Missense Mutation	GCT,GTT	A918V	NP_001070671.1
NM_001282801.1	3048	Missense Mutation	GCT,GTT	A917V	NP_001269730.1
NM_001282802.1	3048	Missense Mutation	GCT,GTT	A950V	NP_001269731.1
NM_001282803.1	3048	Missense Mutation	GCT,GTT	A819V	NP_001269732.1
NM_001282804.1	3048	Intron			NP_001269733.1
NM_020654.4	3048	Missense Mutation	GCT,GTT	A983V	NP_065705.3
XM_005247662.4	3048	Missense Mutation	GCT,GTT	A852V	XP_005247719.1
XM_011513038.2	3048	Missense Mutation	GCT,GTT	A984V	XP_011511340.1
XM_011513039.2	3048	Missense Mutation	GCT,GTT	A951V	XP_011511341.1
XM_011513040.2	3048	Missense Mutation	GCT,GTT	A919V	XP_011511342.1
XM_011513041.2	3048	Missense Mutation	GCT,GTT	A918V	XP_011511343.1
XM_011513042.2	3048	Missense Mutation	GCT,GTT	A853V	XP_011511344.1
XM_011513045.2	3048	Intron			XP_011511347.1
XM_017006924.1	3048	Missense Mutation	GCT,GTT	A951V	XP_016862413.1
XM_017006925.1	3048	Missense Mutation	GCT,GTT	A950V	XP_016862414.1
XM_017006926.1	3048	Missense Mutation	GCT,GTT	A885V	XP_016862415.1
XM_017006927.1	3048	Missense Mutation	GCT,GTT	A884V	XP_016862416.1
XM_017006928.1	3048	Intron			XP_016862417.1
XM_017006929.1	3048	Intron			XP_016862418.1

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