Product Details

SNP ID

rs138308013

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:87268770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGCTGGCGTGGCCGGTGCTGCT[C/G]TTGCTGGACCTAGTGGAGACATGGC

Phenotype

MIM: 139150

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RASA1 PubMed Links

Gene Details

Gene

RASA1

Gene Name

RAS p21 protein activator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002890.2	970	Missense Mutation	CTT,GTT	L107V	NP_002881.1
NM_022650.2	970	Intron			NP_072179.1
XM_011543525.1	970	Missense Mutation	CTT,GTT	L107V	XP_011541827.1
XM_011543527.2	970	Missense Mutation	CTT,GTT	L107V	XP_011541829.1

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