Product Details

SNP ID
rs112476678
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:18568587 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCCAGCCTGGCTCCCCAGCCATC[A/G]ACGGCCGCAGCCAGACAGATGACGA
Phenotype
MIM: 615178 MIM: 191321
Polymorphism
A/G, 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 1367 Missense Mutation AAC,GAC N163D NP_001165419.1
NM_001171949.1 1367 Missense Mutation AAC,GAC N163D NP_001165420.1
NM_024069.3 1367 Missense Mutation AAC,GAC N163D NP_076974.2
XM_005260073.4 1367 Intron XP_005260130.1
XM_006722883.2 1367 Missense Mutation AAC,GAC N163D XP_006722946.1
XM_011528272.2 1367 Missense Mutation AAC,GAC N163D XP_011526574.1
XM_011528273.2 1367 Missense Mutation AAC,GAC N163D XP_011526575.1
XM_017027281.1 1367 Missense Mutation AAC,GAC N163D XP_016882770.1
XM_017027282.1 1367 Intron 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 1367 Intron NP_001029102.1
NM_001321017.1 1367 Intron NP_001307946.1
NM_001321018.1 1367 Intron NP_001307947.1
NM_001321019.1 1367 Intron NP_001307948.1
NM_001321020.1 1367 Intron NP_001307949.1
NM_001321021.1 1367 Intron NP_001307950.1
NM_001321022.1 1367 Intron NP_001307951.1
NM_003333.4 1367 Intron NP_003324.1
XM_005260052.2 1367 Intron XP_005260109.1
XM_005260053.3 1367 Intron XP_005260110.1
XM_005260054.2 1367 Intron XP_005260111.1
XM_006722871.2 1367 Intron XP_006722934.1
XM_017027198.1 1367 Intron XP_016882687.1

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