Product Details

SNP ID

rs148315772

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151467163 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTTGCCTTGTGAAGCTGCCCCGT[C/T]CATTTTTTCTGCCTCCAAAATTATC

Phenotype

MIM: 601293

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RHEB PubMed Links

Gene Details

Gene

RHEB

Gene Name

Ras homolog enriched in brain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005614.3	978	Missense Mutation	AAC,GAC	N171D	NP_005605.1
XM_011516457.1	978	Missense Mutation	AAC,GAC	N160D	XP_011514759.1

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