Product Details

SNP ID

rs147426902

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:26090953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAGCTGTTCGTGTTCTATGATCA[C/T]GAGAGTCGCCGTGTGGAGCCCCGAA

Phenotype

MIM: 613609

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

HFE PubMed Links

Additional Information

For this assay, SNP(s) [rs1799945] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

HFE

Gene Name

hemochromatosis

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000410.3	349	Silent Mutation	CAC,CAT	H63H	NP_000401.1
NM_001300749.1	349	Silent Mutation	CAC,CAT	H63H	NP_001287678.1
NM_139003.2	349	Silent Mutation	CAC,CAT	H63H	NP_620572.1
NM_139004.2	349	Silent Mutation	CAC,CAT	H63H	NP_620573.1
NM_139006.2	349	Silent Mutation	CAC,CAT	H63H	NP_620575.1
NM_139007.2	349	Intron			NP_620576.1
NM_139008.2	349	Intron			NP_620577.1
NM_139009.2	349	Silent Mutation	CAC,CAT	H40H	NP_620578.1
NM_139010.2	349	Intron			NP_620579.1
NM_139011.2	349	Intron			NP_620580.1
XM_011514543.2	349	Silent Mutation	CAC,CAT	H63H	XP_011512845.1

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