Product Details

SNP ID

rs201018945

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151013882 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGGCGACGGAGGGCGACATGGA[A/G]CTGGACGAGGCCGGCGACGTCATCG

Phenotype

MIM: 612205 MIM: 163729

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ATG9B PubMed Links

Additional Information

For this assay, SNP(s) [rs3918211] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ATG9B

Gene Name

autophagy related 9B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317056.1	3467	Intron			NP_001303985.1
XM_011516065.1	3467	Intron			XP_011514367.1
XM_011516066.2	3467	Intron			XP_011514368.1

Gene

NOS3

Gene Name

nitric oxide synthase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000603.4	3467	Silent Mutation	GAA,GAG	E1138E	NP_000594.2
NM_001160109.1	3467	Intron			NP_001153581.1
NM_001160110.1	3467	Intron			NP_001153582.1
NM_001160111.1	3467	Intron			NP_001153583.1
XM_006716002.3	3467	Intron			XP_006716065.1
XM_017012232.1	3467	Silent Mutation	GAA,GAG	E1138E	XP_016867721.1
XM_017012233.1	3467	Silent Mutation	GAA,GAG	E932E	XP_016867722.1
XM_017012234.1	3467	Intron			XP_016867723.1

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