Product Details

SNP ID: rs145206893
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:110198591 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGGAAATGATGATGCTGGCGATGAG[C/T]AAGGTATTCAGCATAGCTCAGGGTC
Phenotype: MIM: 300195
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: AMMECR1 PubMed Links

Gene Details

Gene: AMMECR1
Gene Name: Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001025580.1	1012	Missense Mutation	ACT,GCT	T274A	NP_001020751.1
NM_001171689.1	1012	Missense Mutation	ACT,GCT	T188A	NP_001165160.1
NM_015365.2	1012	Missense Mutation	ACT,GCT	T311A	NP_056180.1