Product Details

SNP ID

rs17887074

Assay Type

Functionally tested

NCBI dbSNP Submissions

37

Location

Chr.1:22637683 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CATATCGCTGGCCTCTATGGTGACC[A/G]AGGACTTGTGCCGAGCACCAGACGG

Phenotype

MIM: 120550 MIM: 120575

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C1QA PubMed Links

Gene Details

Gene

C1QA

Gene Name

complement C1q A chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015991.2	152	Missense Mutation	AAG,GAG	K23E	NP_057075.1

Gene

C1QC

Gene Name

complement C1q C chain

There are no transcripts associated with this gene.

Gene

MIR6127

Gene Name

microRNA 6127

There are no transcripts associated with this gene.

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