Product Details

SNP ID
rs142418832
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:12489858 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAAGAAGAGTGTATGAGACTTAC[C/G]AGTCTCCATTGCCAATCCCTTTTGG
Phenotype
MIM: 608753
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TSEN2 PubMed Links

Gene Details

Gene
TSEN2
Gene Name
tRNA splicing endonuclease subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145392.1 375 Intron NP_001138864.1
NM_001145393.2 375 Intron NP_001138865.1
NM_001145394.1 375 Intron NP_001138866.1
NM_001321277.1 375 Intron NP_001308206.1
NM_001321278.1 375 Missense Mutation CAG,GAG Q20E NP_001308207.1
NM_001321279.1 375 Missense Mutation CAG,GAG Q20E NP_001308208.1
NM_025265.3 375 Missense Mutation CAG,GAG Q20E NP_079541.1
XM_011534139.2 375 Intron XP_011532441.1
XM_017007292.1 375 Intron XP_016862781.1
XM_017007293.1 375 Missense Mutation CAG,GAG Q20E XP_016862782.1
XM_017007294.1 375 Intron XP_016862783.1
XM_017007295.1 375 Missense Mutation CAG,GAG Q20E XP_016862784.1
XM_017007296.1 375 Missense Mutation CAG,GAG Q20E XP_016862785.1
XM_017007297.1 375 Missense Mutation CAG,GAG Q20E XP_016862786.1

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