Product Details

SNP ID
rs150485089
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:72302133 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGAGGAACTAGTGGGAGCCCCAC[C/T]GGCCTTGGTTCCATTTGAGGCTACC
Phenotype
MIM: 300149
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CITED1 PubMed Links

Gene Details

Gene
CITED1
Gene Name
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144885.1 748 Missense Mutation AGT,GGT S84G NP_001138357.1
NM_001144886.1 748 Missense Mutation AGT,GGT S58G NP_001138358.1
NM_001144887.1 748 Missense Mutation AGT,GGT S58G NP_001138359.1
NM_004143.3 748 Missense Mutation AGT,GGT S58G NP_004134.2
XM_011530958.1 748 Missense Mutation AGT,GGT S84G XP_011529260.1

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