Product Details

SNP ID

rs77041372

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:162267530 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTTATTTGATAGTCGGCACACTT[C/G]TTTTGCAGTGCTTTGTTTTCTCTTA

Phenotype

MIM: 606951

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

IFIH1 PubMed Links

Gene Details

Gene

IFIH1

Gene Name

interferon induced with helicase C domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022168.3	3248	Missense Mutation	AAC,AAG	N949K	NP_071451.2

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