Product Details

SNP ID

hCV86446244

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:119157870 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATCGCCACCTACCCCGGCCCCGC[C/G]GCCCACCACCCCGACGCCGCTGGCC

Phenotype

MIM: 614330

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C1QL2 PubMed Links

Gene Details

Gene

C1QL2

Gene Name

complement C1q like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182528.3	1026	Missense Mutation	CGC,GGC	R134G	NP_872334.2

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