Product Details

SNP ID
rs1132613
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:79089502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTCGGGGGGTTGAGCTGCTGCAA[A/G]AAAAGGGTCCGGAACAGCAGAGGGG
Phenotype
MIM: 611898 MIM: 616999
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ENGASE PubMed Links

Gene Details

Gene
ENGASE
Gene Name
endo-beta-N-acetylglucosaminidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042573.2 2822 Intron NP_001036038.1
XM_006722017.3 2822 Intron XP_006722080.1
XM_006722018.3 2822 Intron XP_006722081.1
XM_006722019.3 2822 Intron XP_006722082.1
XM_017024961.1 2822 Intron XP_016880450.1
Gene
RBFOX3
Gene Name
RNA binding protein, fox-1 homolog 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001082575.2 2822 UTR 3 NP_001076044.1
XM_011524359.1 2822 Intron XP_011522661.1
XM_011524360.1 2822 Intron XP_011522662.1
XM_011524362.2 2822 Intron XP_011522664.1
XM_011524363.2 2822 UTR 3 XP_011522665.1
XM_011524365.2 2822 Intron XP_011522667.1
XM_011524366.2 2822 Intron XP_011522668.1
XM_011524367.2 2822 Intron XP_011522669.1
XM_017024208.1 2822 Intron XP_016879697.1
XM_017024209.1 2822 Intron XP_016879698.1
XM_017024210.1 2822 UTR 3 XP_016879699.1
XM_017024211.1 2822 UTR 3 XP_016879700.1

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