Product Details

SNP ID
rs146807948
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:11463123 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGGCTGTACTTTAAAAGTAAAC[C/T]TGTTGGATACTTTTGATGGACTAGA
Phenotype
MIM: 605405
Polymorphism
C/T, 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 5231 Missense Mutation AAG,AGG K619R NP_001073960.1
NM_014688.3 5231 Missense Mutation AAG,AGG K602R NP_055503.1
XM_006717542.3 5231 Missense Mutation AAG,AGG K630R XP_006717605.1
XM_011519762.2 5231 Missense Mutation AAG,AGG K630R XP_011518064.1
XM_011519763.2 5231 Missense Mutation AAG,AGG K446R XP_011518065.1
XM_017016971.1 5231 Missense Mutation AAG,AGG K620R XP_016872460.1
XM_017016972.1 5231 Missense Mutation AAG,AGG K446R XP_016872461.1
XM_017016973.1 5231 Missense Mutation AAG,AGG K625R XP_016872462.1

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