Product Details

SNP ID

rs201354368

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:46397779 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCAGTGCCCGTCTGAGAGCTGC[A/G]GTGAATGCGGTGGCTGACGATGATG

Phenotype

MIM: 611359

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AMBRA1 PubMed Links

Gene Details

Gene

AMBRA1

Gene Name

autophagy and beclin 1 regulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267782.1	3807	Missense Mutation	CGC,TGC	R1193C	NP_001254711.1
NM_001267783.1	3807	Missense Mutation	CGC,TGC	R1071C	NP_001254712.1
NM_001300731.1	3807	Missense Mutation	CGC,TGC	R1130C	NP_001287660.1
NM_017749.3	3807	Missense Mutation	CGC,TGC	R1100C	NP_060219.2
XM_005253009.3	3807	Missense Mutation	CGC,TGC	R1190C	XP_005253066.1
XM_005253011.3	3807	Missense Mutation	CGC,TGC	R1161C	XP_005253068.1
XM_005253014.3	3807	Missense Mutation	CGC,TGC	R1100C	XP_005253071.1
XM_006718259.2	3807	Missense Mutation	CGC,TGC	R1190C	XP_006718322.1
XM_006718260.2	3807	Missense Mutation	CGC,TGC	R1011C	XP_006718323.1
XM_017018007.1	3807	Missense Mutation	CGC,TGC	R1101C	XP_016873496.1
XM_017018008.1	3807	Intron			XP_016873497.1

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