Product Details

SNP ID

rs148161858

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:26087508 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCAGACCGCGGTCCTGCAGGGGC[A/G]CTTGCTGCGTGAGTCCGAGGGCTGC

Phenotype

MIM: 613609

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HFE PubMed Links

Gene Details

Gene

HFE

Gene Name

hemochromatosis

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000410.3	228	Missense Mutation	CAC,CGC	H23R	NP_000401.1
NM_001300749.1	228	Missense Mutation	CAC,CGC	H23R	NP_001287678.1
NM_139003.2	228	Missense Mutation	CAC,CGC	H23R	NP_620572.1
NM_139004.2	228	Missense Mutation	CAC,CGC	H23R	NP_620573.1
NM_139006.2	228	Missense Mutation	CAC,CGC	H23R	NP_620575.1
NM_139007.2	228	Missense Mutation	CAC,CGC	H23R	NP_620576.1
NM_139008.2	228	Missense Mutation	CAC,CGC	H23R	NP_620577.1
NM_139009.2	228	Missense Mutation	CAC,CGC	H23R	NP_620578.1
NM_139010.2	228	Missense Mutation	CAC,CGC	H23R	NP_620579.1
NM_139011.2	228	Missense Mutation	CAC,CGC	H23R	NP_620580.1
XM_011514543.2	228	Missense Mutation	CAC,CGC	H23R	XP_011512845.1

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