Product Details

SNP ID

rs200249782

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:22659556 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCCCAGCTCAGCTGCACCGGG[C/T]CCCCAGCCATCCCTGGCATCCCGGG

Phenotype

MIM: 120570

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C1QB PubMed Links

Gene Details

Gene

C1QB

Gene Name

complement C1q B chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000491.3	232	Missense Mutation	CCC,TCC	P34S	NP_000482.3
XM_011542059.2	232	Missense Mutation	CCC,TCC	P34S	XP_011540361.1

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