Product Details

SNP ID
rs202064459
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:103591020 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTACCAGTGGCTCTGTAGGGGTT[C/T]GAGATTGCAGGTACTCATGAGAAAA
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_017564.9 432 Nonsense Mutation CGA,TGA R69* NP_060034.9
XM_011538537.2 432 Nonsense Mutation CGA,TGA R69* XP_011536839.1
XM_011538538.2 432 Nonsense Mutation CGA,TGA R69* XP_011536840.1
XM_011538539.2 432 Intron XP_011536841.1
XM_011538541.2 432 Intron XP_011536843.1
XM_011538542.2 432 Intron XP_011536844.1
XM_017019585.1 432 Nonsense Mutation CGA,TGA R69* XP_016875074.1

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