Product Details

SNP ID
rs200713906
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:31671649 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCTTCTCTCTACGAGACTCTCTA[C/T]CTCTAGAATCTCTCTCTCTGTCTCG
Phenotype
MIM: 616023 MIM: 147450
Polymorphism
C/T, Transition 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 3575 Missense Mutation GAT,GGT D1050G NP_001138916.1
NM_001145445.1 3575 Missense Mutation GAT,GGT D1043G NP_001138917.1
NM_020706.2 3575 Missense Mutation GAT,GGT D1065G NP_065757.1
XM_005261017.2 3575 Missense Mutation GAT,GGT D1006G XP_005261074.1
XM_006724035.2 3575 Missense Mutation GAT,GGT D1061G XP_006724098.1
XM_006724036.2 3575 Missense Mutation GAT,GGT D1039G XP_006724099.1
XM_017028415.1 3575 Missense Mutation GAT,GGT D1064G XP_016883904.1
XM_017028416.1 3575 Missense Mutation GAT,GGT D1042G XP_016883905.1
XM_017028417.1 3575 Missense Mutation GAT,GGT D984G XP_016883906.1
Gene
SOD1
Gene Name
superoxide dismutase 1, soluble
There are no transcripts associated with this gene.

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