Product Details

SNP ID
rs201769912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:68250303 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGGGAACAACGTTTAATGAATG[A/G]AGCCTTCCAGCCAGCCAGTGATCTC
Phenotype
MIM: 615169 MIM: 610008
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AMZ2 PubMed Links

Gene Details

Gene
AMZ2
Gene Name
archaelysin family metallopeptidase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033569.1 771 Intron NP_001028741.1
NM_001033570.1 771 Intron NP_001028742.1
NM_001033571.1 771 Intron NP_001028743.1
NM_001033572.1 771 Intron NP_001028744.1
NM_001033574.1 771 Intron NP_001028746.1
NM_001289054.1 771 Intron NP_001275983.1
NM_001289056.1 771 Intron NP_001275985.1
NM_016627.4 771 Intron NP_057711.3
XM_005257432.4 771 Missense Mutation GAA,GGA E103G XP_005257489.1
XM_005257433.3 771 Intron XP_005257490.1
XM_005257435.4 771 Intron XP_005257492.1
XM_005257436.3 771 Intron XP_005257493.1
XM_006721940.2 771 Intron XP_006722003.1
XM_017024723.1 771 Missense Mutation GAA,GGA E39G XP_016880212.1
XM_017024724.1 771 Intron XP_016880213.1
XM_017024725.1 771 Missense Mutation AAG,GAG K2E XP_016880214.1
XM_017024726.1 771 Intron XP_016880215.1
XM_017024727.1 771 Intron XP_016880216.1
XM_017024728.1 771 Missense Mutation AAG,GAG K2E XP_016880217.1
Gene
ARSG
Gene Name
arylsulfatase G
There are no transcripts associated with this gene.

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