Product Details

SNP ID

rs200974822

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:120214154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCGTACCTTCGGGACCAAAGAAGG[C/T]TCCACACTGTGCACAGAAGAAGTGT

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	2165	Missense Mutation	ACC,GCC	T448A	NP_001074324.1
NM_001243756.1	2165	Missense Mutation	ACC,GCC	T462A	NP_001230685.1
NM_002859.3	2165	Missense Mutation	ACC,GCC	T414A	NP_002850.2
NM_025157.4	2165	Missense Mutation	ACC,GCC	T281A	NP_079433.3
XM_005253917.3	2165	Missense Mutation	ACC,GCC	T260A	XP_005253974.1
XM_006719532.1	2165	Missense Mutation	ACC,GCC	T986A	XP_006719595.1
XM_006719534.1	2165	Missense Mutation	ACC,GCC	T853A	XP_006719597.1
XM_006719535.3	2165	Missense Mutation	ACC,GCC	T853A	XP_006719598.1
XM_006719536.2	2165	Missense Mutation	ACC,GCC	T853A	XP_006719599.1
XM_011538622.1	2165	Missense Mutation	ACC,GCC	T853A	XP_011536924.1
XM_011538623.1	2165	Missense Mutation	ACC,GCC	T853A	XP_011536925.1
XM_017019726.1	2165	Missense Mutation	ACC,GCC	T992A	XP_016875215.1
XM_017019727.1	2165	Missense Mutation	ACC,GCC	T987A	XP_016875216.1
XM_017019728.1	2165	Missense Mutation	ACC,GCC	T984A	XP_016875217.1
XM_017019729.1	2165	Missense Mutation	ACC,GCC	T944A	XP_016875218.1
XM_017019730.1	2165	Missense Mutation	ACC,GCC	T992A	XP_016875219.1
XM_017019731.1	2165	Missense Mutation	ACC,GCC	T853A	XP_016875220.1
XM_017019732.1	2165	Intron			XP_016875221.1
XM_017019733.1	2165	Missense Mutation	ACC,GCC	T797A	XP_016875222.1
XM_017019734.1	2165	Missense Mutation	ACC,GCC	T745A	XP_016875223.1
XM_017019735.1	2165	Missense Mutation	ACC,GCC	T715A	XP_016875224.1
XM_017019736.1	2165	Missense Mutation	ACC,GCC	T605A	XP_016875225.1
XM_017019737.1	2165	Missense Mutation	ACC,GCC	T557A	XP_016875226.1
XM_017019738.1	2165	Missense Mutation	ACC,GCC	T502A	XP_016875227.1
XM_017019739.1	2165	Missense Mutation	ACC,GCC	T468A	XP_016875228.1
XM_017019740.1	2165	Missense Mutation	ACC,GCC	T454A	XP_016875229.1
XM_017019741.1	2165	Missense Mutation	ACC,GCC	T446A	XP_016875230.1
XM_017019742.1	2165	Missense Mutation	ACC,GCC	T420A	XP_016875231.1
XM_017019743.1	2165	Missense Mutation	ACC,GCC	T281A	XP_016875232.1

Gene

PXN-AS1

Gene Name

PXN antisense RNA 1

There are no transcripts associated with this gene.

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