Product Details

SNP ID
rs143212912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:85873158 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCTGCTGATGTCTGACGAATCT[C/G]TCATATTGAAGTAAAGAGCCCACAG
Phenotype
MIM: 300390
Polymorphism
C/G, Transversion 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 1693 Missense Mutation ACA,AGA T555R NP_000381.1
NM_001145414.3 1693 Intron NP_001138886.1
NM_001320959.1 1693 Missense Mutation ACA,AGA T407R NP_001307888.1
XM_017029242.1 1693 Missense Mutation ACA,AGA T555R XP_016884731.1
XM_017029243.1 1693 Missense Mutation ACA,AGA T407R XP_016884732.1
XM_017029244.1 1693 Missense Mutation ACA,AGA T407R XP_016884733.1
XM_017029245.1 1693 Missense Mutation ACA,AGA T407R XP_016884734.1
XM_017029246.1 1693 Missense Mutation ACA,AGA T407R XP_016884735.1

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