Product Details

SNP ID
rs11547499
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:75882125 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGGATGAGGCGGGCCCTGGTGTTT[C/G]GCATGGTTGTGCCCTCAGTCCTGGT
Phenotype
MIM: 615203
Polymorphism
C/G, 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_001040456.1 518 Missense Mutation CGC,GGC R159G NP_001035546.1
NM_001040457.1 518 Missense Mutation CGC,GGC R18G NP_001035547.1
XM_005250511.4 518 Missense Mutation CGC,GGC R18G XP_005250568.1

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