Product Details

SNP ID
rs202141618
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:21429442 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATCAACCACAACAGCTAGAACTG[A/G]TAACAACGCAACTTGCTGGAAACGC
Phenotype
MIM: 600540
Polymorphism
A/G, Transition 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_001326542.1 495 Missense Mutation ATA,GTA I76V NP_001313471.1
NM_001326543.1 495 UTR 5 NP_001313472.1
NM_003112.4 495 Missense Mutation ATA,GTA I93V NP_003103.2
XM_005249828.2 495 Missense Mutation ATA,GTA I76V XP_005249885.1
XM_005249829.3 495 Missense Mutation ATA,GTA I93V XP_005249886.1
XM_011515486.2 495 Missense Mutation ATA,GTA I93V XP_011513788.1
XM_011515487.2 495 Missense Mutation ATA,GTA I93V XP_011513789.1
XM_011515489.2 495 Missense Mutation ATA,GTA I93V XP_011513791.1
XM_017012557.1 495 Missense Mutation ATA,GTA I93V XP_016868046.1

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