Product Details

SNP ID
rs201752755
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:75482611 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGGATTCACAAATCTTACATTTC[A/G]TGCCTAATATATGAAACTGAACAGT
Phenotype
MIM: 607680
Polymorphism
A/G, Transition 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_001009922.2 710 Missense Mutation ACG,ATG T229M NP_001009922.1
NM_001278536.1 710 Missense Mutation ACG,ATG T198M NP_001265465.1
NM_001278537.1 710 Missense Mutation ACG,ATG T189M NP_001265466.1
NM_001278538.1 710 Missense Mutation ACG,ATG T216M NP_001265467.1
NM_001278539.1 710 Missense Mutation ACG,ATG T111M NP_001265468.1
NM_015436.3 710 Missense Mutation ACG,ATG T238M NP_056251.2
XM_011531838.2 710 Missense Mutation ACG,ATG T111M XP_011530140.1
XM_011531839.2 710 Missense Mutation ACG,ATG T111M XP_011530141.1

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