Product Details

SNP ID
rs137980601
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:47624426 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCTTCTCGCCCTGACCTTCGACC[A/T]TGGAAACGGTGGGCCTGAGGCATTA
Phenotype
MIM: 300383 MIM: 313440
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
CFP PubMed Links

Gene Details

Gene
CFP
Gene Name
complement factor properdin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145252.1 1385 Missense Mutation AAG,ATG K420M NP_001138724.1
NM_002621.2 1385 Missense Mutation AAG,ATG K420M NP_002612.1
XM_017029575.1 1385 Missense Mutation AAG,ATG K285M XP_016885064.1
Gene
SYN1
Gene Name
synapsin I
There are no transcripts associated with this gene.

View Full Product Details