Product Details

SNP ID
rs184288417
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:31671502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAGGCTTTAGGACTGCAGCCTCA[C/G]ACACCCCCTTCTCAAGTTCTGAAGC
Phenotype
MIM: 616023 MIM: 147450
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SCAF4 PubMed Links

Gene Details

Gene
SCAF4
Gene Name
SR-related CTD associated factor 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145444.1 3722 Missense Mutation TCT,TGT S1099C NP_001138916.1
NM_001145445.1 3722 Missense Mutation TCT,TGT S1092C NP_001138917.1
NM_020706.2 3722 Missense Mutation TCT,TGT S1114C NP_065757.1
XM_005261017.2 3722 Missense Mutation TCT,TGT S1055C XP_005261074.1
XM_006724035.2 3722 Missense Mutation TCT,TGT S1110C XP_006724098.1
XM_006724036.2 3722 Missense Mutation TCT,TGT S1088C XP_006724099.1
XM_017028415.1 3722 Missense Mutation TCT,TGT S1113C XP_016883904.1
XM_017028416.1 3722 Missense Mutation TCT,TGT S1091C XP_016883905.1
XM_017028417.1 3722 Missense Mutation TCT,TGT S1033C XP_016883906.1
Gene
SOD1
Gene Name
superoxide dismutase 1, soluble
There are no transcripts associated with this gene.

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