Product Details

SNP ID

rs1285180

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:186375881 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAATTGAGACCGGAGGGAATCTGGC[C/T]CCTAGAGGCTGGTACTTGGGCCCGA

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	123	UTR 5			NP_001157717.1
NM_001164246.1	123	UTR 5			NP_001157718.1
NM_017847.5	123	UTR 5			NP_060317.3
XM_011509660.1	123	UTR 5			XP_011507962.1
XM_011509661.1	123	UTR 5			XP_011507963.1
XM_017001543.1	123	UTR 5			XP_016857032.1

Gene

TPR

Gene Name

translocated promoter region, nuclear basket protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003292.2	123	Intron			NP_003283.2

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