Product Details

SNP ID

rs145235171

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:34560930 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCAAGTAGAGGCCATGTGTGAGG[C/T]AGTACTCCCGCCGCAGGAAGGCATA

Phenotype

MIM: 601242 MIM: 608528

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAP1LC3A PubMed Links

Gene Details

Gene

MAP1LC3A

Gene Name

microtubule associated protein 1 light chain 3 alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032514.3	1444	Intron			NP_115903.1
NM_181509.2	1444	Intron			NP_852610.1
XM_011529083.2	1444	Intron			XP_011527385.1
XM_011529084.2	1444	Intron			XP_011527386.1
XM_011529085.2	1444	Intron			XP_011527387.1

Gene

PIGU

Gene Name

phosphatidylinositol glycan anchor biosynthesis class U

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080476.4	1444	Missense Mutation	TAC,TGC	Y415C	NP_536724.1
XM_011528542.2	1444	Missense Mutation	TAC,TGC	Y199C	XP_011526844.1
XM_017027664.1	1444	Missense Mutation	TAC,TGC	Y367C	XP_016883153.1
XM_017027665.1	1444	Intron			XP_016883154.1

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