Product Details

SNP ID

rs200570958

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19264674 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCCACAGCTCTCTCAATGCTGC[C/T]TCTTGTGGAGGGCTAGGGGGTCGGA

Phenotype

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

There are no transcripts associated with this gene.

Gene

TM6SF2

Gene Name

transmembrane 6 superfamily member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001524.2	1174	Missense Mutation	AAG,AGG	K375R	NP_001001524.2

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