Product Details

SNP ID
rs184735609
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:75516953 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGAAACCTGGAGTCATACCTTCT[A/G]TCTTTGATTCTCCATATCACCTACA
Phenotype
MIM: 607680 MIM: 612535
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
There are no transcripts associated with this gene.

Gene
THAP6
Gene Name
THAP domain containing 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317791.1 372 Missense Mutation ATC,GTC I88V NP_001304720.1
NM_144721.5 372 Missense Mutation ATC,GTC I88V NP_653322.1
XM_005262772.2 372 Missense Mutation ATC,GTC I47V XP_005262829.1
XM_005262774.3 372 Missense Mutation ATC,GTC I88V XP_005262831.1
XM_006714109.3 372 Missense Mutation ATC,GTC I88V XP_006714172.1
XM_011531666.2 372 Missense Mutation ATC,GTC I88V XP_011529968.1
XM_011531667.2 372 Missense Mutation ATC,GTC I88V XP_011529969.1
XM_017007800.1 372 Missense Mutation ATC,GTC I88V XP_016863289.1
XM_017007801.1 372 Missense Mutation ATC,GTC I88V XP_016863290.1

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