Product Details

SNP ID
rs201489210
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:103590979 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCTCAACCTTGGAGTCAAGTGCC[C/T]GGATGGTTACACCATGATTACCAGT
Phenotype
MIM: 608561
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
STAB2 PubMed Links

Gene Details

Gene
STAB2
Gene Name
stabilin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017564.9 391 Missense Mutation CCG,CTG P55L NP_060034.9
XM_011538537.2 391 Missense Mutation CCG,CTG P55L XP_011536839.1
XM_011538538.2 391 Missense Mutation CCG,CTG P55L XP_011536840.1
XM_011538539.2 391 Intron XP_011536841.1
XM_011538541.2 391 Intron XP_011536843.1
XM_011538542.2 391 Intron XP_011536844.1
XM_017019585.1 391 Missense Mutation CCG,CTG P55L XP_016875074.1

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