Product Details

SNP ID
rs144367973
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:73062103 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATAATGGGTTATTTTCTTAAATTG[C/T]ATGCTTATGTTAATTCTCACAGTCT
Phenotype
MIM: 613250 MIM: 613822
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EBLN2 PubMed Links

Gene Details

Gene
EBLN2
Gene Name
endogenous Bornavirus-like nucleoprotein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018029.4 445 Missense Mutation CAT,TAT H8Y NP_060499.3
Gene
PPP4R2
Gene Name
protein phosphatase 4 regulatory subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318025.1 445 Intron NP_001304954.1
NM_001318026.1 445 Intron NP_001304955.1
NM_001318027.1 445 Intron NP_001304956.1
NM_001318028.1 445 Intron NP_001304957.1
NM_174907.3 445 Intron NP_777567.1

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