Product Details

SNP ID

rs200758021

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5444388 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGACGGGTGGATGGCCACTGGCTG[A/G]TGGGTGTCCGTGGTGGCATAGGTGC

Phenotype

MIM: 601269 MIM: 614405

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C1QBP PubMed Links

Gene Details

Gene

C1QBP

Gene Name

complement C1q binding protein

There are no transcripts associated with this gene.

Gene

DHX33

Gene Name

DEAH-box helicase 33

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199699.1	1981	Silent Mutation	CAC,CAT	H474H	NP_001186628.1
NM_020162.3	1981	Silent Mutation	CAC,CAT	H647H	NP_064547.2
XM_017024877.1	1981	Silent Mutation	CAC,CAT	H219H	XP_016880366.1

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