Product Details

SNP ID

rs201248157

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:46603607 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGGGACTCCATGTGCTCATACT[C/T]CTCTTCCGGGGGCTGTTCCATGGGT

Phenotype

MIM: 611359 MIM: 615086

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AMBRA1 PubMed Links

Gene Details

Gene

AMBRA1

Gene Name

autophagy and beclin 1 regulator 1

There are no transcripts associated with this gene.

Gene

HARBI1

Gene Name

harbinger transposase derived 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173811.3	1577	Missense Mutation	AAG,GAG	K325E	NP_776172.1
XM_011520025.1	1577	Missense Mutation	AAG,GAG	K353E	XP_011518327.1
XM_011520026.2	1577	Missense Mutation	AAG,GAG	K353E	XP_011518328.1
XM_011520027.1	1577	Missense Mutation	AAG,GAG	K353E	XP_011518329.1
XM_011520028.2	1577	Missense Mutation	AAG,GAG	K353E	XP_011518330.1
XM_011520029.2	1577	Missense Mutation	AAG,GAG	K353E	XP_011518331.1
XM_017017602.1	1577	Missense Mutation	AAG,GAG	K353E	XP_016873091.1
XM_017017603.1	1577	Missense Mutation	AAG,GAG	K353E	XP_016873092.1
XM_017017604.1	1577	Missense Mutation	AAG,GAG	K325E	XP_016873093.1
XM_017017605.1	1577	Missense Mutation	AAG,GAG	K325E	XP_016873094.1
XM_017017606.1	1577	Missense Mutation	AAG,GAG	K325E	XP_016873095.1

View Full Product Details