Product Details

SNP ID
rs147823103
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:35977479 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAAGTAGAAGCTTTGTGTCAACA[C/T]TGAAGAGCAATCCTGCCACTCCTAC
Phenotype
MIM: 610347
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C18orf21 PubMed Links

Gene Details

Gene
C18orf21
Gene Name
chromosome 18 open reading frame 21
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201474.1 553 Silent Mutation CTG,TTG L36L NP_001188403.1
NM_001201475.1 553 Silent Mutation CTG,TTG L36L NP_001188404.1
NM_001201476.1 553 Intron NP_001188405.1
NM_031446.4 553 Silent Mutation CTG,TTG L124L NP_113634.3
XM_005258364.4 553 Silent Mutation CTG,TTG L130L XP_005258421.1
Gene
RPRD1A
Gene Name
regulation of nuclear pre-mRNA domain containing 1A
There are no transcripts associated with this gene.

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