Product Details

SNP ID
rs189062618
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:75882145 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTGGCATGGTTGTGCCCTCAGT[A/C]CTGGTTCCGTGGCTCCTGCTGGGTG
Phenotype
MIM: 615203
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
RHBDD2 PubMed Links

Gene Details

Gene
RHBDD2
Gene Name
rhomboid domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040456.1 538 Silent Mutation GTA,GTC V165V NP_001035546.1
NM_001040457.1 538 Silent Mutation GTA,GTC V24V NP_001035547.1
XM_005250511.4 538 Silent Mutation GTA,GTC V24V XP_005250568.1

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