Product Details

SNP ID

rs141211712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151014025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGACAGGATCAGCAACGCTACCA[C/T]GAAGACATTTTCGGGCTCACGCTGC

Phenotype

MIM: 612205 MIM: 163729

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATG9B PubMed Links

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	3521	Intron			NP_001303985.1
XM_011516065.1	3521	Intron			XP_011514367.1
XM_011516066.2	3521	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	3521	Silent Mutation	CAC,CAT	H1156H	NP_000594.2
NM_001160109.1	3521	Intron			NP_001153581.1
NM_001160110.1	3521	Intron			NP_001153582.1
NM_001160111.1	3521	Intron			NP_001153583.1
XM_006716002.3	3521	Intron			XP_006716065.1
XM_017012232.1	3521	Silent Mutation	CAC,CAT	H1156H	XP_016867721.1
XM_017012233.1	3521	Silent Mutation	CAC,CAT	H950H	XP_016867722.1
XM_017012234.1	3521	Intron			XP_016867723.1

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