Product Details

SNP ID
rs576470595
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18565152 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACAAGGCTTCACTGCGCACTTAA[C/G]TGTCTGGGACAATTCCAACCCTGGG
Phenotype
MIM: 615178 MIM: 191321
Polymorphism
C/G, Transversion 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_001171948.1 745 Intron NP_001165419.1
NM_001171949.1 745 Intron NP_001165420.1
NM_024069.3 745 Intron NP_076974.2
XM_005260073.4 745 Missense Mutation AAC,AAG N91K XP_005260130.1
XM_006722883.2 745 Intron XP_006722946.1
XM_011528272.2 745 Intron XP_011526574.1
XM_011528273.2 745 Intron XP_011526575.1
XM_017027281.1 745 Intron XP_016882770.1
XM_017027282.1 745 Missense Mutation AAC,AAG N91K XP_016882771.1
Gene
UBA52
Gene Name
ubiquitin A-52 residue ribosomal protein fusion product 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033930.2 745 Intron NP_001029102.1
NM_001321017.1 745 Intron NP_001307946.1
NM_001321018.1 745 Intron NP_001307947.1
NM_001321019.1 745 Intron NP_001307948.1
NM_001321020.1 745 Intron NP_001307949.1
NM_001321021.1 745 Intron NP_001307950.1
NM_001321022.1 745 Intron NP_001307951.1
NM_003333.4 745 Intron NP_003324.1
XM_005260052.2 745 Intron XP_005260109.1
XM_005260053.3 745 Intron XP_005260110.1
XM_005260054.2 745 Intron XP_005260111.1
XM_006722871.2 745 Intron XP_006722934.1
XM_017027198.1 745 Intron XP_016882687.1

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