Product Details

SNP ID
rs146559875
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:21429586 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGAGTGCATCTCCTACAAAAACT[A/G]AATCAGGTAATTCTTCCACCCCTGG
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_001326542.1 639 Missense Mutation AAA,GAA K124E NP_001313471.1
NM_001326543.1 639 UTR 5 NP_001313472.1
NM_003112.4 639 Missense Mutation AAA,GAA K141E NP_003103.2
XM_005249828.2 639 Missense Mutation AAA,GAA K124E XP_005249885.1
XM_005249829.3 639 Missense Mutation AAA,GAA K141E XP_005249886.1
XM_011515486.2 639 Missense Mutation AAA,GAA K141E XP_011513788.1
XM_011515487.2 639 Missense Mutation AAA,GAA K141E XP_011513789.1
XM_011515489.2 639 Missense Mutation AAA,GAA K141E XP_011513791.1
XM_017012557.1 639 Missense Mutation AAA,GAA K141E XP_016868046.1

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