Product Details

SNP ID

rs2383477

Assay Type

Functionally tested

NCBI dbSNP Submissions

48

Location

Chr.1:186381972 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTCAGGTCATGTGTGGGGAAGATA[C/T]AATGCTAACTTGCATTAGCAGTGTT

Phenotype

MIM: 609335 MIM: 189940

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C1orf27 PubMed Links

Gene Details

Gene

C1orf27

Gene Name

chromosome 1 open reading frame 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164245.1		Intron			NP_001157717.1
NM_001164246.1		Intron			NP_001157718.1
NM_017847.5		Intron			NP_060317.3
XM_011509660.1		Intron			XP_011507962.1
XM_011509661.1		Intron			XP_011507963.1
XM_017001543.1		Intron			XP_016857032.1

Gene

TPR

Gene Name

translocated promoter region, nuclear basket protein

There are no transcripts associated with this gene.

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