Product Details

SNP ID

rs199627539

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:44668999 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTACCTGATCAGCCACATCCCTC[C/T]GGACCAGGAGGGGCAGATGGTGGGT

Phenotype

MIM: 614661 MIM: 610844

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PATL2 PubMed Links

Gene Details

Gene

PATL2

Gene Name

PAT1 homolog 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145112.1	1828	Missense Mutation	CAG,CGG	Q402R	NP_001138584.1
XM_011521336.2	1828	Missense Mutation	CAG,CGG	Q440R	XP_011519638.2
XM_011521337.2	1828	Missense Mutation	CAG,CGG	Q437R	XP_011519639.2
XM_011521338.2	1828	Missense Mutation	CAG,CGG	Q402R	XP_011519640.1
XM_011521339.2	1828	Missense Mutation	CAG,CGG	Q402R	XP_011519641.1
XM_011521340.2	1828	Missense Mutation	CAG,CGG	Q402R	XP_011519642.1
XM_011521341.1	1828	Missense Mutation	CAG,CGG	Q402R	XP_011519643.1
XM_011521342.2	1828	Missense Mutation	CAG,CGG	Q328R	XP_011519644.1
XM_011521343.2	1828	Missense Mutation	CAG,CGG	Q318R	XP_011519645.1
XM_011521344.2	1828	Missense Mutation	CAG,CGG	Q318R	XP_011519646.1
XM_011521345.2	1828	Missense Mutation	CAG,CGG	Q315R	XP_011519647.1
XM_011521346.2	1828	Missense Mutation	CAG,CGG	Q295R	XP_011519648.2
XM_011521347.1	1828	Missense Mutation	CAG,CGG	Q213R	XP_011519649.1
XM_011521348.2	1828	Missense Mutation	CAG,CGG	Q213R	XP_011519650.1
XM_017022000.1	1828	Missense Mutation	CAG,CGG	Q440R	XP_016877489.1
XM_017022001.1	1828	Missense Mutation	CAG,CGG	Q315R	XP_016877490.1

Gene

SPG11

Gene Name

spastic paraplegia 11 (autosomal recessive)

There are no transcripts associated with this gene.

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