Product Details

SNP ID
rs144748730
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:114571365 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGACTGAATAGGTCATTGATCCT[A/G]TCAAGGGATAACAATATTTTTGCCA
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NXPE2 PubMed Links

Gene Details

Gene
NXPE2
Gene Name
neurexophilin and PC-esterase domain family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_182495.5 925 Intron NP_872301.2
XM_011542604.2 925 Intron XP_011540906.1
XM_017017206.1 925 Intron XP_016872695.1
XM_017017207.1 925 Intron XP_016872696.1
XM_017017208.1 925 Intron XP_016872697.1
XM_017017209.1 925 Intron XP_016872698.1
XM_017017210.1 925 Intron XP_016872699.1
XM_017017211.1 925 Intron XP_016872700.1
XM_017017212.1 925 Intron XP_016872701.1
Gene
NXPE4
Gene Name
neurexophilin and PC-esterase domain family member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077639.1 925 Missense Mutation ACA,ATA T403I NP_001071107.1
NM_017678.2 925 Missense Mutation ACA,ATA T119I NP_060148.2
XM_006718865.3 925 Intron XP_006718928.1
XM_011542881.2 925 Missense Mutation ACA,ATA T403I XP_011541183.1
XM_011542882.2 925 Missense Mutation ACA,ATA T334I XP_011541184.1
XM_011542883.2 925 Intron XP_011541185.1

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