Product Details

SNP ID
rs144495825
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:50293442 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCGCTGGTGACTGCAGGCCATC[A/G]CTGCCCTGGTCACATTGATCACATA
Phenotype
MIM: 607071 MIM: 604038 MIM: 602725 MIM: 607073
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
HYAL1 PubMed Links

Gene Details

Gene
HYAL1
Gene Name
hyaluronoglucosaminidase 1
There are no transcripts associated with this gene.

Gene
HYAL3
Gene Name
hyaluronoglucosaminidase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001200029.1 1241 Missense Mutation GCG,GTG A353V NP_001186958.1
NM_001200030.1 1241 Missense Mutation GCG,GTG A323V NP_001186959.1
NM_001200031.1 1241 Missense Mutation GCG,GTG A104V NP_001186960.1
NM_001200032.1 1241 Missense Mutation GCG,GTG A74V NP_001186961.1
NM_003549.3 1241 Missense Mutation GCG,GTG A353V NP_003540.2
Gene
IFRD2
Gene Name
interferon related developmental regulator 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006764.4 1241 Intron NP_006755.4
Gene
LSMEM2
Gene Name
leucine rich single-pass membrane protein 2
There are no transcripts associated with this gene.

Gene
NAT6
Gene Name
N-acetyltransferase 6
There are no transcripts associated with this gene.

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