Product Details

SNP ID

rs140012569

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:3890808 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTTTGCTAAGCGAGAGTCACTCA[C/G]AACTCTGCAGCCACCGAGAGGAAGA

Phenotype

MIM: 601883

Polymorphism

C/G, Transversion 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	2974	Missense Mutation	CTG,GTG	L127V	NP_997239.2
XM_005244743.3	2974	Missense Mutation	CTG,GTG	L138V	XP_005244800.1
XM_011541323.2	2974	Missense Mutation	CTG,GTG	L138V	XP_011539625.1

Gene

DFFB

Gene Name

DNA fragmentation factor subunit beta

There are no transcripts associated with this gene.

Gene

LINC01134

Gene Name

long intergenic non-protein coding RNA 1134

There are no transcripts associated with this gene.

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