Product Details

SNP ID

rs142342237

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:50300514 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGCTCTTCCGCTCACACCACGGT[C/G]CCTGCCAGCCAGGGTAGCATCGACA

Phenotype

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

Polymorphism

C/G, Transversion 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	2115	Missense Mutation	GCA,GGA	A426G	NP_149349.2
NM_153281.1	2115	Missense Mutation	GCA,GGA	A426G	NP_695013.1
NM_153282.2	2115	Missense Mutation	GCA,GGA	A396G	NP_695014.1
NM_153283.2	2115	Missense Mutation	GCA,GGA	A244G	NP_695015.1
NM_153285.2	2115	Missense Mutation	GCA,GGA	A167G	NP_695017.1
XM_011533667.2	2115	Missense Mutation	GCA,GGA	A426G	XP_011531969.1
XM_011533668.2	2115	Missense Mutation	GCA,GGA	A426G	XP_011531970.1
XM_011533669.2	2115	Missense Mutation	GCA,GGA	A426G	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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