Product Details

SNP ID: rs72956950
Assay Type: Functionally tested
NCBI dbSNP Submissions: 12
Location: Chr.1:42767438 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGGGGAAGTCAGCTCCCGCGAGGCA[A/G]CCGGTCTCGGGGCTCCGCGGGAGGC
Phenotype: MIM: 610339
Polymorphism: A/G, 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		Intron			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146289.1		Intron			NP_001139761.1
NM_001243246.1		Intron			NP_001230175.1
NM_022356.3		Intron			NP_071751.3
XM_005271110.2		Intron			XP_005271167.1
XM_011541948.1		Intron			XP_011540250.1
XM_017002051.1		Intron			XP_016857540.1
XM_017002052.1		Intron			XP_016857541.1

View Full Product Details