Product Details

SNP ID

rs202239956

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:75881981 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCGTGATCTTCGCCATCTTCTCC[A/G]CTATCATCTTCCTGTCATTCGAGGC

Phenotype

MIM: 615203

Polymorphism

A/G, Transition 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	374	Missense Mutation	ACT,GCT	T111A	NP_001035546.1
NM_001040457.1	374	UTR 5			NP_001035547.1
XM_005250511.4	374	UTR 5			XP_005250568.1

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