Product Details

SNP ID

rs4519167

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:7089601 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGGCTCACCCTGGCAGGAATGC[C/G]TGTCTTCCTGAAGCTCATAGCCTGG

Phenotype

MIM: 613785 MIM: 608974

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C1R PubMed Links

Gene Details

Gene

C1R

Gene Name

complement C1r subcomponent

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001733.4	690	Missense Mutation	ACG,AGG	T186R	NP_001724.3
XM_017019915.1	690	Missense Mutation	ACG,AGG	T200R	XP_016875404.1

Gene

C1RL

Gene Name

complement C1r subcomponent like

There are no transcripts associated with this gene.

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