Product Details

SNP ID
hCV8938359
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:101326080 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAGTTCAAAGTTAACAATAGGAT[C/T]CTAATGAGAGGAAAAAAAGAGTGTA
Phenotype
MIM: 607056 MIM: 612846
Polymorphism
C/T, 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 2932 Missense Mutation AAT,GAT N941D NP_001070671.1
NM_001282801.1 2932 Missense Mutation AAT,GAT N940D NP_001269730.1
NM_001282802.1 2932 Missense Mutation AAT,GAT N973D NP_001269731.1
NM_001282803.1 2932 Missense Mutation AAT,GAT N842D NP_001269732.1
NM_001282804.1 2932 Intron NP_001269733.1
NM_020654.4 2932 Missense Mutation AAT,GAT N1006D NP_065705.3

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