Product Details

SNP ID

rs141436857

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49994446 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCTCTTTGCTCAATCTCATTTA[C/T]ACAATGCACAACAATGGAGGGGATC

Phenotype

MIM: 604980

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RACGAP1 PubMed Links

Gene Details

Gene

RACGAP1

Gene Name

Rac GTPase activating protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001126103.2	1451	Missense Mutation	ATA,GTA	I370V	NP_001119575.1
NM_001126104.2	1451	Intron			NP_001119576.1
NM_001319999.1	1451	Intron			NP_001306928.1
NM_001320000.1	1451	Missense Mutation	ATA,GTA	I370V	NP_001306929.1
NM_001320001.1	1451	Intron			NP_001306930.1
NM_001320002.1	1451	Intron			NP_001306931.1
NM_001320003.1	1451	Intron			NP_001306932.1
NM_001320004.1	1451	Intron			NP_001306933.1
NM_001320005.1	1451	Intron			NP_001306934.1
NM_001320006.1	1451	Intron			NP_001306935.1
NM_001320007.1	1451	Intron			NP_001306936.1
NM_013277.4	1451	Missense Mutation	ATA,GTA	I370V	NP_037409.2
XM_006719359.1	1451	Intron			XP_006719422.1
XM_011538238.1	1451	Intron			XP_011536540.1
XM_011538243.1	1451	Missense Mutation	ATA,GTA	I296V	XP_011536545.1
XM_017019220.1	1451	Missense Mutation	ATA,GTA	I370V	XP_016874709.1
XM_017019221.1	1451	Intron			XP_016874710.1
XM_017019222.1	1451	Intron			XP_016874711.1
XM_017019223.1	1451	Intron			XP_016874712.1
XM_017019224.1	1451	Intron			XP_016874713.1
XM_017019225.1	1451	Intron			XP_016874714.1
XM_017019226.1	1451	Intron			XP_016874715.1
XM_017019227.1	1451	Intron			XP_016874716.1

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