Product Details

SNP ID
rs200625034
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:19414605 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCAGCATCTGGACCTCTTAGTTC[A/G]TGACTCATCCCACCCCAACAAGGCA
Phenotype
MIM: 601237
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RNF112 PubMed Links

Gene Details

Gene
RNF112
Gene Name
ring finger protein 112
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007148.4 925 Missense Mutation CAT,CGT H318R NP_009079.2
XM_006721571.3 925 Missense Mutation CAT,CGT H318R XP_006721634.1
XM_006721572.3 925 Missense Mutation CAT,CGT H317R XP_006721635.1
XM_006721573.3 925 Missense Mutation CAT,CGT H294R XP_006721636.1

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