Product Details

SNP ID

rs200426400

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:3890031 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAAATGCATTTTTCTGAACTCTC[A/G]TCTGCTCATTGAAGGACAAGATGAA

Phenotype

MIM: 601883

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C1orf174 PubMed Links

Gene Details

Gene

C1orf174

Gene Name

chromosome 1 open reading frame 174

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207356.2	3256	Nonsense Mutation	CGA,TGA	R221*	NP_997239.2
XM_005244743.3	3256	Nonsense Mutation	CGA,TGA	R232*	XP_005244800.1
XM_011541323.2	3256	Nonsense Mutation	CGA,TGA	R232*	XP_011539625.1

Gene

DFFB

Gene Name

DNA fragmentation factor subunit beta

There are no transcripts associated with this gene.

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