Product Details

SNP ID
rs199734719
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:51713863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCACGCCCTGCACGCACAGCAGC[A/G]CCCACAGCAGCGCCCAAGGGCGGCC
Phenotype
MIM: 601463
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
HAS1 PubMed Links

Gene Details

Gene
HAS1
Gene Name
hyaluronan synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297436.1 1211 Missense Mutation GCG,GTG A433V NP_001284365.1
NM_001523.3 1211 Missense Mutation GCG,GTG A434V NP_001514.2
XM_011526884.2 1211 UTR 3 XP_011525186.1
Gene
SPACA6
Gene Name
sperm acrosome associated 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316972.1 1211 Intron NP_001303901.1
NM_001316994.1 1211 Intron NP_001303923.1

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