Product Details

SNP ID
rs144996206
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:85864381 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACAGTTACATTCCTGAGAATCAA[C/T]TGATTTATAATTTTCATCTGCTAGT
Phenotype
MIM: 300390
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHM PubMed Links

Gene Details

Gene
CHM
Gene Name
CHM, Rab escort protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000390.3 2331 UTR 3 NP_000381.1
NM_001145414.3 2331 Intron NP_001138886.1
NM_001320959.1 2331 UTR 3 NP_001307888.1
XM_017029242.1 2331 Intron XP_016884731.1
XM_017029243.1 2331 UTR 3 XP_016884732.1
XM_017029244.1 2331 UTR 3 XP_016884733.1
XM_017029245.1 2331 UTR 3 XP_016884734.1
XM_017029246.1 2331 UTR 3 XP_016884735.1

View Full Product Details