Product Details

SNP ID

rs199623646

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:10947873 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCAGGGTTTGCGTGGATGGAGG[G/T]CTGGACGTGTGTGCAACCCCCCACT

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

C1orf127 PubMed Links

Gene Details

Gene

C1orf127

Gene Name

chromosome 1 open reading frame 127

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170754.1	2180	Missense Mutation	AGA,AGC	R754S	NP_001164225.1
XM_017000373.1	2180	Missense Mutation	AGA,AGC	R718S	XP_016855862.1

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