Product Details

SNP ID
rs200931581
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:50300601 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGAGGGCACCCCGCAGGCTCAGG[A/G]GCCCACCACCAGGCGTGAGCTGGAT
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033159.3 2028 Missense Mutation CCC,CTC P397L NP_149349.2
NM_153281.1 2028 Missense Mutation CCC,CTC P397L NP_695013.1
NM_153282.2 2028 Missense Mutation CCC,CTC P367L NP_695014.1
NM_153283.2 2028 Missense Mutation CCC,CTC P215L NP_695015.1
NM_153285.2 2028 Missense Mutation CCC,CTC P138L NP_695017.1
XM_011533667.2 2028 Missense Mutation CCC,CTC P397L XP_011531969.1
XM_011533668.2 2028 Missense Mutation CCC,CTC P397L XP_011531970.1
XM_011533669.2 2028 Missense Mutation CCC,CTC P397L XP_011531971.1
Gene
HYAL3
Gene Name
hyaluronoglucosaminidase 3
There are no transcripts associated with this gene.

Gene
IFRD2
Gene Name
interferon related developmental regulator 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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