Product Details

SNP ID
rs28372803
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:64759785 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTGGCAAATACTAACCAACCGAT[A/G]AAGGAAGAGAAAGGAGGACTGTACA
Phenotype
MIM: 607664 MIM: 615077
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GNS PubMed Links

Gene Details

Gene
GNS
Gene Name
glucosamine (N-acetyl)-6-sulfatase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002076.3 Intron NP_002067.1
Gene
TBC1D30
Gene Name
TBC1 domain family member 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015279.1 Intron NP_056094.1
XM_011538078.2 Intron XP_011536380.1
XM_017019083.1 Intron XP_016874572.1
XM_017019084.1 Intron XP_016874573.1
XM_017019085.1 Intron XP_016874574.1
XM_017019086.1 Intron XP_016874575.1
XM_017019087.1 Intron XP_016874576.1

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