Product Details

SNP ID

rs2305749

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.19:35041401 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

GACGCAGAAAGGGCGGGGGGAAGGG[G/T]TCGCTGGGTGAGGGTGGAGTGGGCT

Phenotype

MIM: 142440 MIM: 600235

Polymorphism

G/T, Transversion 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		Intron			NP_002142.1
NM_182983.2		Intron			NP_892028.1
XM_005258838.4		Intron			XP_005258895.2
XM_006723181.3		Intron			XP_006723244.2
XM_017026731.1		Intron			XP_016882220.1
XM_017026732.1		Intron			XP_016882221.1

Gene

SCN1B

Gene Name

sodium voltage-gated channel beta subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037.4		Intron			NP_001028.1
NM_001321605.1		Intron			NP_001308534.1
NM_199037.4		Intron			NP_950238.1

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