Product Details

SNP ID
rs145251582
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:146018213 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTGGCAGGAAGGCTCGGGCATCC[T/G]CCAGTGCTGCCTGAGCTGCCACGGT
Phenotype
MIM: 608374
Polymorphism
T/G, Transversion substitution
Allele Nomenclature
Literature Links
HFE2 PubMed Links

Gene Details

Gene
HFE2
Gene Name
hemochromatosis type 2 (juvenile)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316767.1 947 Missense Mutation NP_001303696.1
NM_145277.4 947 Missense Mutation NP_660320.3
NM_202004.3 947 Missense Mutation NP_973733.1
NM_213652.3 947 Missense Mutation NP_998817.1
NM_213653.3 947 Missense Mutation NP_998818.1
XM_005272932.1 947 Missense Mutation XP_005272989.1

View Full Product Details