Product Details

SNP ID

rs35345144

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:77332738 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCATAAGGACAGTTACCTGTAGCA[C/G]CTCTTTAGCTGAACCTCTCTTCTCC

Phenotype

MIM: 602590

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PAK1 PubMed Links

Gene Details

Gene

PAK1

Gene Name

p21 (RAC1) activated kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128620.1	1792	Missense Mutation	CTG,GTG	L515V	NP_001122092.1
NM_002576.4	1792	Missense Mutation	CTG,GTG	L515V	NP_002567.3
XM_011545080.2	1792	Missense Mutation	CTG,GTG	L515V	XP_011543382.1
XM_011545081.2	1792	Missense Mutation	CTG,GTG	L515V	XP_011543383.1
XM_011545082.2	1792	Missense Mutation	CTG,GTG	L515V	XP_011543384.1
XM_011545083.2	1792	Missense Mutation	CTG,GTG	L515V	XP_011543385.1
XM_011545084.2	1792	Missense Mutation	CTG,GTG	L515V	XP_011543386.1
XM_017017846.1	1792	Missense Mutation	CTG,GTG	L515V	XP_016873335.1
XM_017017847.1	1792	Missense Mutation	CTG,GTG	L515V	XP_016873336.1
XM_017017848.1	1792	Missense Mutation	CTG,GTG	L515V	XP_016873337.1
XM_017017849.1	1792	Missense Mutation	CTG,GTG	L515V	XP_016873338.1
XM_017017850.1	1792	Missense Mutation	CTG,GTG	L515V	XP_016873339.1

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