Product Details

SNP ID
rs11547688
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:154213932 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATCCAGAGCTTTCATCCTATACA[A/G]ATAGTTGTAGCAACCTGTTGAGGAA
Phenotype
MIM: 616472
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C1orf189 PubMed Links

Gene Details

Gene
C1orf189
Gene Name
chromosome 1 open reading frame 189
There are no transcripts associated with this gene.

Gene
C1orf43
Gene Name
chromosome 1 open reading frame 43
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098616.2 589 Silent Mutation CTG,TTG L101L NP_001092086.1
NM_001297717.1 589 Intron NP_001284646.1
NM_001297718.1 589 Silent Mutation CTG,TTG L66L NP_001284647.1
NM_001297720.1 589 Intron NP_001284649.1
NM_001297721.1 589 Silent Mutation CTG,TTG L67L NP_001284650.1
NM_001297723.1 589 Silent Mutation CTG,TTG L101L NP_001284652.1
NM_015449.3 589 Silent Mutation CTG,TTG L67L NP_056264.1
NM_138740.3 589 Intron NP_620077.1
Gene
UBAP2L
Gene Name
ubiquitin associated protein 2 like
There are no transcripts associated with this gene.

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