Product Details

SNP ID

rs112877723

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:22644193 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTACGACGGACTGCCGGGGCCCA[A/G]GGGGGAGCCAGGTGAGTCTGCTGGC

Phenotype

MIM: 120550 MIM: 120570 MIM: 120575

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C1QA PubMed Links

Gene Details

Gene

C1QA

Gene Name

complement C1q A chain

There are no transcripts associated with this gene.

Gene

C1QB

Gene Name

complement C1q B chain

There are no transcripts associated with this gene.

Gene

C1QC

Gene Name

complement C1q C chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114101.1	296	Missense Mutation	AAG,AGG	K57R	NP_001107573.1
NM_172369.3	296	Missense Mutation	AAG,AGG	K57R	NP_758957.2

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