Product Details

SNP ID
rs760953
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:110366771 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCAGCCGAATGAGATTGGATAAAAG[C/T]TTATAACCGTGCTAACCAGTCTCGC
Phenotype
MIM: 300195 MIM: 300965
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
RGAG1
Gene Name
retrotransposon gag domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020769.2 Intron NP_065820.1
XM_011530998.2 Intron XP_011529300.1
XM_011530999.2 Intron XP_011529301.1
XM_017029694.1 Intron XP_016885183.1
XM_017029695.1 Intron XP_016885184.1

View Full Product Details