Product Details

SNP ID
rs140575590
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:89098621 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGATAACTTCGAGATCTGGAATGT[G/T]ACCGAAAATGAGAATGCTTTGCTGT
Phenotype
MIM: 615913
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PM20D2 PubMed Links

Gene Details

Gene
PM20D2
Gene Name
peptidase M20 domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010853.2 1193 Intron NP_001010853.1
XM_005248661.2 1193 Intron XP_005248718.1
XM_005248662.4 1193 Intron XP_005248719.1
XM_011535481.2 1193 Intron XP_011533783.1
XM_017010289.1 1193 Intron XP_016865778.1
XM_017010290.1 1193 Intron XP_016865779.1
XM_017010291.1 1193 Intron XP_016865780.1
Gene
SRSF12
Gene Name
serine and arginine rich splicing factor 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080743.4 1193 Nonsense Mutation TAA,TCA *248S NP_542781.3
XM_006715348.2 1193 Nonsense Mutation TAA,TCA *153S XP_006715411.1
XM_011535483.2 1193 Nonsense Mutation TAA,TCA *233S XP_011533785.1
XM_011535484.1 1193 Nonsense Mutation TAA,TCA *153S XP_011533786.1
XM_017010292.1 1193 Nonsense Mutation TAA,TCA *248S XP_016865781.1
XM_017010293.1 1193 Nonsense Mutation TAA,TCA *153S XP_016865782.1

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