Product Details

SNP ID

rs201280791

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:51713555 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCCGCGGCCAAGTGGTAGGCCT[A/C]GGCTGCGCGGGAAGGGCCGCTCCAG

Phenotype

MIM: 601463

Polymorphism

A/C, Transversion 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	1668	Nonsense Mutation	GAG,TAG	E536*	NP_001284365.1
NM_001523.3	1668	Nonsense Mutation	GAG,TAG	E537*	NP_001514.2
XM_011526884.2	1668	Intron			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	1668	Intron			NP_001303901.1
NM_001316994.1	1668	Intron			NP_001303923.1

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