Product Details

SNP ID

rs201595252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19266513 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGGCCGATGCCTCCAGCAAACA[A/C]CAAGGCCCAGTCTGGAAGCCAGGAG

Phenotype

MIM: 607992 MIM: 606563

Polymorphism

A/C, Transversion 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

SUGP1

Gene Name

SURP and G-patch domain containing 1

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	951	Missense Mutation	GTG,TTG	V301L	NP_001001524.2

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