Product Details

SNP ID

rs145487411

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:50300614 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCAGGCTCAGGGGCCCACCACCAG[C/G]CGTGAGCTGGATGGAGAAACTGGCA

Phenotype

MIM: 607071 MIM: 604038 MIM: 602725 MIM: 607073

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

HYAL1 PubMed Links

Additional Information

For this assay, SNP(s) [rs117179004] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

HYAL1

Gene Name

hyaluronoglucosaminidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033159.3	2015	Missense Mutation	CCT,GCT	P393A	NP_149349.2
NM_153281.1	2015	Missense Mutation	CCT,GCT	P393A	NP_695013.1
NM_153282.2	2015	Missense Mutation	CCT,GCT	P363A	NP_695014.1
NM_153283.2	2015	Missense Mutation	CCT,GCT	P211A	NP_695015.1
NM_153285.2	2015	Missense Mutation	CCT,GCT	P134A	NP_695017.1
XM_011533667.2	2015	Missense Mutation	CCT,GCT	P393A	XP_011531969.1
XM_011533668.2	2015	Missense Mutation	CCT,GCT	P393A	XP_011531970.1
XM_011533669.2	2015	Missense Mutation	CCT,GCT	P393A	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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