Product Details

SNP ID

rs145194143

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:38846086 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACTTCCACTTCCATCTTCCTTTA[A/T]CCTATTTTAAAAGAAAGTACTATTC

Phenotype

MIM: 608267

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

RRAGC PubMed Links

Gene Details

Gene

RRAGC

Gene Name

Ras related GTP binding C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271851.1	976	Missense Mutation	ATA,TTA	I267L	NP_001258780.1
NM_022157.3	976	Missense Mutation	ATA,TTA	I301L	NP_071440.1

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