Product Details

SNP ID
rs143556172
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:35977591 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCGAAAGGCAAGAGCCCAGCAT[C/T]GGTTTTCAGGTATCTTAATCCATGA
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_001201474.1 665 Missense Mutation TCG,TTG S73L NP_001188403.1
NM_001201475.1 665 Missense Mutation TCG,TTG S73L NP_001188404.1
NM_001201476.1 665 Intron NP_001188405.1
NM_031446.4 665 Missense Mutation TCG,TTG S161L NP_113634.3
XM_005258364.4 665 Missense Mutation TCG,TTG S167L 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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