Product Details

SNP ID
rs17320729
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:110217968 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GATGTTATATATGTATAAAAGTATA[C/T]ATGTTTTTCCCATTCAAGATGCCAA
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 Intron NP_001020751.1
NM_001171689.1 Intron NP_001165160.1
NM_015365.2 Intron NP_056180.1
Gene
SNORD96B
Gene Name
small nucleolar RNA, C/D box 96B
There are no transcripts associated with this gene.

View Full Product Details