Product Details

SNP ID
rs147895250
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:156044052 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGGGTTCGAGACTGTCGGGTGCA[C/G]CTGGCTGGTCCCCGATCCTCCGGTG
Phenotype
MIM: 605440
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
UBQLN4 PubMed Links

Gene Details

Gene
UBQLN4
Gene Name
ubiquilin 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304342.1 1101 Intron NP_001291271.1
NM_020131.4 1101 Intron NP_064516.2
XM_005245348.3 1101 Missense Mutation CTG,GTG L358V XP_005245405.1

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