Product Details

SNP ID
rs139491266
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:21429886 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATTAGACCTGGTGTTTCAATACCA[C/G]TGCAGTTACAGACTCTTCCTGGTAC
Phenotype
MIM: 600540
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SP4 PubMed Links

Gene Details

Gene
SP4
Gene Name
Sp4 transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001326542.1 939 Missense Mutation CTG,GTG L224V NP_001313471.1
NM_001326543.1 939 UTR 5 NP_001313472.1
NM_003112.4 939 Missense Mutation CTG,GTG L241V NP_003103.2
XM_005249828.2 939 Missense Mutation CTG,GTG L224V XP_005249885.1
XM_005249829.3 939 Missense Mutation CTG,GTG L241V XP_005249886.1
XM_011515486.2 939 Missense Mutation CTG,GTG L241V XP_011513788.1
XM_011515487.2 939 Missense Mutation CTG,GTG L241V XP_011513789.1
XM_011515489.2 939 Missense Mutation CTG,GTG L241V XP_011513791.1
XM_017012557.1 939 Missense Mutation CTG,GTG L241V XP_016868046.1

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