Product Details

SNP ID
rs200473728
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:11463171 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAACTTGGCTCAGCGTGCTTTCTC[A/G]GGCTAGGAGGGTAAAGGGCATGCCG
Phenotype
MIM: 605405
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
USP6NL PubMed Links

Gene Details

Gene
USP6NL
Gene Name
USP6 N-terminal like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080491.3 5183 Missense Mutation CCG,CTG P603L NP_001073960.1
NM_014688.3 5183 Missense Mutation CCG,CTG P586L NP_055503.1
XM_006717542.3 5183 Missense Mutation CCG,CTG P614L XP_006717605.1
XM_011519762.2 5183 Missense Mutation CCG,CTG P614L XP_011518064.1
XM_011519763.2 5183 Missense Mutation CCG,CTG P430L XP_011518065.1
XM_017016971.1 5183 Missense Mutation CCG,CTG P604L XP_016872460.1
XM_017016972.1 5183 Missense Mutation CCG,CTG P430L XP_016872461.1
XM_017016973.1 5183 Missense Mutation CCG,CTG P609L XP_016872462.1

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