Product Details

SNP ID

rs150747521

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:37253288 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAGCGAGCATCATCACTTTCATG[C/T]GTAATGTAACGTTCTCCAATGCGAG

Phenotype

MIM: 615898 MIM: 607077

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NDUFAF7 PubMed Links

Gene Details

Gene

NDUFAF7

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083946.1	3395	Intron			NP_001077415.1
NM_144736.4	3395	Intron			NP_653337.1
XM_005264410.1	3395	Intron			XP_005264467.1
XM_005264411.1	3395	Intron			XP_005264468.1
XM_011532956.1	3395	Intron			XP_011531258.1

Gene

PRKD3

Gene Name

protein kinase D3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005813.4	3395	Silent Mutation	ACA,ACG	T854T	NP_005804.1
XM_005264237.3	3395	Silent Mutation	ACA,ACG	T854T	XP_005264294.1
XM_005264238.3	3395	Silent Mutation	ACA,ACG	T750T	XP_005264295.1
XM_017003741.1	3395	Silent Mutation	ACA,ACG	T681T	XP_016859230.1
XM_017003742.1	3395	Silent Mutation	ACA,ACG	T681T	XP_016859231.1
XM_017003743.1	3395	Silent Mutation	ACA,ACG	T595T	XP_016859232.1
XM_017003744.1	3395	Silent Mutation	ACA,ACG	T595T	XP_016859233.1

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