Product Details

SNP ID

rs145247299

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:42774827 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCAACATTTACTATCTCTATAAA[C/T]GGGAGAGTGGTCAGCAGTATTTTTC

Phenotype

MIM: 610339

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C1orf50 PubMed Links

Gene Details

Gene

C1orf50

Gene Name

chromosome 1 open reading frame 50

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024097.3	440	Missense Mutation	CGG,TGG	R125W	NP_077002.2

Gene

LOC105378683

Gene Name

uncharacterized LOC105378683

There are no transcripts associated with this gene.

Gene

P3H1

Gene Name

prolyl 3-hydroxylase 1

There are no transcripts associated with this gene.

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