Product Details

SNP ID

rs138680442

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19258592 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTTATGGCGATACCCGTAGTTGC[G/T]CAGGCCCCCGTTGGCATCACCGCCG

Phenotype

MIM: 600826 MIM: 606563

Polymorphism

G/T, Transversion 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	803	Missense Mutation	AGC,CGC	S250R	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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