Product Details

SNP ID

rs149061964

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:120212562 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGTGCTCGAAGAAGCTGCCGTTCA[C/T]GAATGGCGTGAAGCATTCCTGCCAG

Phenotype

MIM: 602505

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PXN PubMed Links

Gene Details

Gene

PXN

Gene Name

paxillin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080855.2	2351	Missense Mutation	ATG,GTG	M510V	NP_001074324.1
NM_001243756.1	2351	Missense Mutation	ATG,GTG	M524V	NP_001230685.1
NM_002859.3	2351	Missense Mutation	ATG,GTG	M476V	NP_002850.2
NM_025157.4	2351	Missense Mutation	ATG,GTG	M343V	NP_079433.3
XM_005253917.3	2351	Missense Mutation	ATG,GTG	M322V	XP_005253974.1
XM_006719532.1	2351	Missense Mutation	ATG,GTG	M1048V	XP_006719595.1
XM_006719534.1	2351	Missense Mutation	ATG,GTG	M915V	XP_006719597.1
XM_006719535.3	2351	Missense Mutation	ATG,GTG	M915V	XP_006719598.1
XM_006719536.2	2351	Missense Mutation	ATG,GTG	M915V	XP_006719599.1
XM_011538622.1	2351	Missense Mutation	ATG,GTG	M915V	XP_011536924.1
XM_011538623.1	2351	Missense Mutation	ATG,GTG	M915V	XP_011536925.1
XM_017019726.1	2351	Missense Mutation	ATG,GTG	M1054V	XP_016875215.1
XM_017019727.1	2351	Missense Mutation	ATG,GTG	M1049V	XP_016875216.1
XM_017019728.1	2351	Missense Mutation	ATG,GTG	M1046V	XP_016875217.1
XM_017019729.1	2351	Missense Mutation	ATG,GTG	M1006V	XP_016875218.1
XM_017019730.1	2351	UTR 3			XP_016875219.1
XM_017019731.1	2351	Missense Mutation	ATG,GTG	M915V	XP_016875220.1
XM_017019732.1	2351	Intron			XP_016875221.1
XM_017019733.1	2351	Missense Mutation	ATG,GTG	M859V	XP_016875222.1
XM_017019734.1	2351	Missense Mutation	ATG,GTG	M807V	XP_016875223.1
XM_017019735.1	2351	Missense Mutation	ATG,GTG	M777V	XP_016875224.1
XM_017019736.1	2351	Missense Mutation	ATG,GTG	M667V	XP_016875225.1
XM_017019737.1	2351	Missense Mutation	ATG,GTG	M619V	XP_016875226.1
XM_017019738.1	2351	Missense Mutation	ATG,GTG	M564V	XP_016875227.1
XM_017019739.1	2351	Missense Mutation	ATG,GTG	M530V	XP_016875228.1
XM_017019740.1	2351	Missense Mutation	ATG,GTG	M516V	XP_016875229.1
XM_017019741.1	2351	Missense Mutation	ATG,GTG	M508V	XP_016875230.1
XM_017019742.1	2351	Missense Mutation	ATG,GTG	M482V	XP_016875231.1
XM_017019743.1	2351	Missense Mutation	ATG,GTG	M343V	XP_016875232.1

Gene

PXN-AS1

Gene Name

PXN antisense RNA 1

There are no transcripts associated with this gene.

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