Product Details

SNP ID

rs140981845

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:51714064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCTCAGCCACCGCAGGAAGGAC[A/G]AGGGCGTCTCTGAGTAGCAGCGGGA

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	1010	Missense Mutation	TCG,TTG	S366L	NP_001284365.1
NM_001523.3	1010	Missense Mutation	TCG,TTG	S367L	NP_001514.2
XM_011526884.2	1010	Missense Mutation	CGT,TGT	R323C	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	1010	Intron			NP_001303901.1
NM_001316994.1	1010	Intron			NP_001303923.1

View Full Product Details