Product Details

SNP ID
rs184789653
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:114399991 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAATTCGAGCTGCGATAACACCT[C/T]CTAATGCAATCAAACGCTGTTGCAG
Phenotype
MIM: 612413
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C11orf71 PubMed Links

Gene Details

Gene
C11orf71
Gene Name
chromosome 11 open reading frame 71
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271562.1 560 Missense Mutation GAA,GGA E114G NP_001258491.1
NM_019021.3 560 Missense Mutation GAA,GGA E114G NP_061894.2
Gene
RBM7
Gene Name
RNA binding motif protein 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286045.1 560 Intron NP_001272974.1
NM_001286046.1 560 Intron NP_001272975.1
NM_001286047.1 560 Intron NP_001272976.1
NM_001286048.1 560 Intron NP_001272977.1
NM_016090.3 560 Intron NP_057174.1

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