Product Details

SNP ID

rs1044545

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:44666454 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACGTGGTGACAGAACAGGGGAAG[C/T]AGGTTGCTGGGGAAAGCTAGGGGTT

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	2076	Silent Mutation	CTA,CTG	L517L	NP_001138584.1
XM_011521336.2	2076	Missense Mutation	ACT,GCT	T523A	XP_011519638.2
XM_011521337.2	2076	Missense Mutation	ACT,GCT	T520A	XP_011519639.2
XM_011521338.2	2076	Missense Mutation	ACT,GCT	T485A	XP_011519640.1
XM_011521339.2	2076	Missense Mutation	ACT,GCT	T485A	XP_011519641.1
XM_011521340.2	2076	Missense Mutation	ACT,GCT	T485A	XP_011519642.1
XM_011521341.1	2076	Missense Mutation	ACT,GCT	T485A	XP_011519643.1
XM_011521342.2	2076	Missense Mutation	ACT,GCT	T411A	XP_011519644.1
XM_011521343.2	2076	Missense Mutation	ACT,GCT	T401A	XP_011519645.1
XM_011521344.2	2076	Missense Mutation	ACT,GCT	T401A	XP_011519646.1
XM_011521345.2	2076	Missense Mutation	ACT,GCT	T398A	XP_011519647.1
XM_011521346.2	2076	Missense Mutation	ACT,GCT	T378A	XP_011519648.2
XM_011521347.1	2076	Missense Mutation	ACT,GCT	T296A	XP_011519649.1
XM_011521348.2	2076	Silent Mutation	CTA,CTG	L328L	XP_011519650.1
XM_017022000.1	2076	Silent Mutation	CTA,CTG	L555L	XP_016877489.1
XM_017022001.1	2076	Missense Mutation	ACT,GCT	T398A	XP_016877490.1

Gene

SPG11

Gene Name

spastic paraplegia 11 (autosomal recessive)

There are no transcripts associated with this gene.

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