Product Details

SNP ID

rs201749016

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47590239 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGTGCCGCGGCCCGGGGCCAGCG[C/T]CCGAGCCCACCAAGCTGCGCGTGCG

Phenotype

MIM: 614911 MIM: 603846

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C1QTNF4 PubMed Links

Gene Details

Gene

C1QTNF4

Gene Name

C1q and tumor necrosis factor related protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031909.2	839	Missense Mutation			NP_114115.2
XM_017017165.1	839	Missense Mutation			XP_016872654.1
XM_017017166.1	839	Missense Mutation			XP_016872655.1

Gene

FAM180B

Gene Name

family with sequence similarity 180 member B

There are no transcripts associated with this gene.

Gene

NDUFS3

Gene Name

NADH:ubiquinone oxidoreductase core subunit S3

There are no transcripts associated with this gene.

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