Product Details

SNP ID

rs114536312

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19260900 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCGCCCGTAGTCTTGCAGCGTGA[C/T]GTTGCGGAGGACCAGGGAGGCATCC

Phenotype

MIM: 600826 MIM: 606563

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HAPLN4 PubMed Links

Gene Details

Gene

HAPLN4

Gene Name

hyaluronan and proteoglycan link protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_023002.2	452	Missense Mutation	ATC,GTC	I133V	NP_075378.1

Gene

NCAN

Gene Name

neurocan

There are no transcripts associated with this gene.

Gene

TM6SF2

Gene Name

transmembrane 6 superfamily member 2

There are no transcripts associated with this gene.

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