Product Details

SNP ID
rs148174608
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:38749534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTTTATTAAAATAAATACCTGCT[G/T]CTTCTTCGCCGGCTGTAACGATGAC
Phenotype
MIM: 600572
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SRSF7 PubMed Links

Gene Details

Gene
SRSF7
Gene Name
serine and arginine rich splicing factor 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031684.2 486 Missense Mutation AGA,AGC R127S NP_001026854.1
NM_001195446.1 486 Missense Mutation AGA,AGC R127S NP_001182375.1
XM_005264484.2 486 Missense Mutation AGA,AGC R127S XP_005264541.1
XM_005264485.2 486 Missense Mutation AGA,AGC R127S XP_005264542.1
XM_011533032.2 486 Intron XP_011531334.1

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