Product Details

SNP ID
rs143440705
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:47637031 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCTACCTGGAAGGAGAGCTTGGC[C/T]GGGCTACGGGGCGCAATGGGACTCA
Phenotype
MIM: 300383 MIM: 311040
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CFP PubMed Links

Gene Details

Gene
CFP
Gene Name
complement factor properdin
There are no transcripts associated with this gene.

Gene
ELK1
Gene Name
ELK1, ETS transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114123.2 614 Silent Mutation CCA,CCG P390P NP_001107595.1
NM_001257168.1 614 UTR 3 NP_001244097.1
NM_005229.4 614 Silent Mutation CCA,CCG P390P NP_005220.2
XM_017029339.1 614 Silent Mutation CCA,CCG P390P XP_016884828.1

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