Product Details

SNP ID
rs147250391
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:75482563 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATTGCTGATCCAGTGAAATTCTA[C/G]GTCCTCCAGCTTGAGCAGTATTATA
Phenotype
MIM: 607680
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
RCHY1 PubMed Links

Gene Details

Gene
RCHY1
Gene Name
ring finger and CHY zinc finger domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001009922.2 758 Missense Mutation CCT,CGT P245R NP_001009922.1
NM_001278536.1 758 Missense Mutation CCT,CGT P214R NP_001265465.1
NM_001278537.1 758 Missense Mutation CCT,CGT P205R NP_001265466.1
NM_001278538.1 758 Missense Mutation CCT,CGT P232R NP_001265467.1
NM_001278539.1 758 Missense Mutation CCT,CGT P127R NP_001265468.1
NM_015436.3 758 Missense Mutation CCT,CGT P254R NP_056251.2
XM_011531838.2 758 Missense Mutation CCT,CGT P127R XP_011530140.1
XM_011531839.2 758 Missense Mutation CCT,CGT P127R XP_011530141.1

View Full Product Details