Product Details

SNP ID
rs138989466
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:35042518 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGAGGCAGTGACATGGCGCAGAA[A/G]GAGGGTGAGTCCCCTTCCCTGAGCC
Phenotype
MIM: 142440 MIM: 600235
Polymorphism
A/G, 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_002151.2 211 Silent Mutation AAA,AAG K4K NP_002142.1
NM_182983.2 211 Silent Mutation AAA,AAG K4K NP_892028.1
XM_005258838.4 211 Silent Mutation AAA,AAG K4K XP_005258895.2
XM_006723181.3 211 Silent Mutation AAA,AAG K4K XP_006723244.2
XM_017026731.1 211 Silent Mutation AAA,AAG K4K XP_016882220.1
XM_017026732.1 211 Intron XP_016882221.1
Gene
SCN1B
Gene Name
sodium voltage-gated channel beta subunit 1
There are no transcripts associated with this gene.

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