Product Details

SNP ID
rs199990809
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:45393098 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTGCATTTCAGGCTTTCCAACCT[C/T]ATACAGTGTCCCTCCAATGGATGAC
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SRBD1 PubMed Links

Gene Details

Gene
SRBD1
Gene Name
S1 RNA binding domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018079.4 2175 Missense Mutation AAG,GAG K849E NP_060549.4
XM_011532946.1 2175 Missense Mutation AAG,GAG K833E XP_011531248.1
XM_017004417.1 2175 Intron XP_016859906.1
XM_017004418.1 2175 Missense Mutation AAG,GAG K352E XP_016859907.1

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