Product Details

SNP ID
rs61763054
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18562079 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGATGGACCTCCCGGACTCGGCCT[C/T]GAGGGTCTTCTGCGGCCGCATCCTG
Phenotype
MIM: 615178 MIM: 191321
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KXD1 PubMed Links

Gene Details

Gene
KXD1
Gene Name
KxDL motif containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171948.1 903 Missense Mutation TCG,TTG S8L NP_001165419.1
NM_001171949.1 903 Missense Mutation TCG,TTG S8L NP_001165420.1
NM_024069.3 903 Missense Mutation TCG,TTG S8L NP_076974.2
XM_005260073.4 903 Missense Mutation TCG,TTG S8L XP_005260130.1
XM_006722883.2 903 Missense Mutation TCG,TTG S8L XP_006722946.1
XM_011528272.2 903 Missense Mutation TCG,TTG S8L XP_011526574.1
XM_011528273.2 903 Missense Mutation TCG,TTG S8L XP_011526575.1
XM_017027281.1 903 Missense Mutation TCG,TTG S8L XP_016882770.1
XM_017027282.1 903 Missense Mutation TCG,TTG S8L XP_016882771.1
Gene
UBA52
Gene Name
ubiquitin A-52 residue ribosomal protein fusion product 1
There are no transcripts associated with this gene.

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