Product Details

SNP ID: rs139648368
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:72301748 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTAGCAGCTAGATGGAAAGTCCGCA[A/G]TGAAGTCAAACTCATTCTGCCCCAG
Phenotype: MIM: 300149
Polymorphism: A/G, 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	1133	Missense Mutation	ACT,ATT	T212I	NP_001138357.1
NM_001144886.1	1133	Missense Mutation	ACT,ATT	T186I	NP_001138358.1
NM_001144887.1	1133	Missense Mutation	ACT,ATT	T186I	NP_001138359.1
NM_004143.3	1133	Missense Mutation	ACT,ATT	T186I	NP_004134.2
XM_011530958.1	1133	Missense Mutation	ACT,ATT	T212I	XP_011529260.1