Product Details

SNP ID

rs140545844

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35049332 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGCTCCAGACCCAAGGTGGCAG[C/T]TCTCACTGCGGGGACCCTGCTACTT

Phenotype

MIM: 142440 MIM: 600235

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HPN PubMed Links

Gene Details

Gene

HPN

Gene Name

hepsin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002151.2	258	Missense Mutation	GCT,GTT	A20V	NP_002142.1
NM_182983.2	258	Missense Mutation	GCT,GTT	A20V	NP_892028.1
XM_005258838.4	258	Missense Mutation	GCT,GTT	A20V	XP_005258895.2
XM_006723181.3	258	Missense Mutation	GCT,GTT	A20V	XP_006723244.2
XM_017026731.1	258	Missense Mutation	GCT,GTT	A20V	XP_016882220.1
XM_017026732.1	258	UTR 5			XP_016882221.1

Gene

HPN-AS1

Gene Name

HPN antisense RNA 1

There are no transcripts associated with this gene.

Gene

SCN1B

Gene Name

sodium voltage-gated channel beta subunit 1

There are no transcripts associated with this gene.

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