Product Details

SNP ID

rs2074438

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.17:5444256 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCCTAAAGTACTCAGGGGCAGCCTC[A/G]TACAGCCACTGTGCATCTATGACGC

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	2113	Silent Mutation	TAC,TAT	Y518Y	NP_001186628.1
NM_020162.3	2113	Silent Mutation	TAC,TAT	Y691Y	NP_064547.2
XM_017024877.1	2113	Silent Mutation	TAC,TAT	Y263Y	XP_016880366.1

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