Product Details

SNP ID
rs138027156
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:8355118 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTTGTCACCTTCTTTCTTCAGT[C/T]GACTGGAAAGACAAAACAGGAAAGC
Phenotype
MIM: 605226
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RERE PubMed Links

Gene Details

Gene
RERE
Gene Name
arginine-glutamic acid dipeptide repeats
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042681.1 5220 Missense Mutation CAA,CGA Q1557R NP_001036146.1
NM_001042682.1 5220 Missense Mutation CAA,CGA Q1003R NP_001036147.1
NM_012102.3 5220 Missense Mutation CAA,CGA Q1557R NP_036234.3
XM_005263464.2 5220 Missense Mutation CAA,CGA Q1557R XP_005263521.1
XM_005263466.1 5220 Missense Mutation CAA,CGA Q1289R XP_005263523.1
XM_011541510.1 5220 Missense Mutation CAA,CGA Q1515R XP_011539812.1
XM_011541511.1 5220 Intron XP_011539813.1
XM_017001358.1 5220 Missense Mutation CAA,CGA Q1557R XP_016856847.1
XM_017001359.1 5220 Missense Mutation CAA,CGA Q1557R XP_016856848.1

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