Product Details

SNP ID

rs112406962

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44960304 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGTCGCCGGCGTCCAGGTGCAGGA[C/T]CACGCTGTTGCTGGCGTAGTCGTAG

Phenotype

MIM: 611586

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C1QL1 PubMed Links

Gene Details

Gene

C1QL1

Gene Name

complement C1q like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006688.4	889	Missense Mutation	ATC,GTC	I221V	NP_006679.1

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