Product Details

SNP ID: rs139247938
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:49016031 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCTGTGCAGTCCAGCACTGCTGTC[C/T]GGCTCAGCAGATCCGGAAAGGGGAG
Phenotype: MIM: 146691 MIM: 615150 MIM: 612911 MIM: 614584 MIM: 606031
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: DALRD3 PubMed Links

Gene Details

Gene: DALRD3
Gene Name: DALR anticodon binding domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009996.2	1761	Missense Mutation	CAG,CGG	Q462R	NP_001009996.1
NM_001276405.1	1761	Silent Mutation	CCA,CCG	P453P	NP_001263334.1
NM_018114.5	1761	Missense Mutation	CAG,CGG	Q295R	NP_060584.3
XM_005265269.3	1761	Missense Mutation	CAG,CGG	Q462R	XP_005265326.1
XM_006713219.2	1761	Missense Mutation	CAG,CGG	Q295R	XP_006713282.1
XM_011533891.1	1761	Missense Mutation	CAG,CGG	Q462R	XP_011532193.1
XM_011533892.1	1761	Missense Mutation	CAG,CGG	Q295R	XP_011532194.1
XM_011533893.1	1761	UTR 3			XP_011532195.1
XM_017006723.1	1761	Silent Mutation	CCA,CCG	P286P	XP_016862212.1

Gene: IMPDH2
Gene Name: inosine monophosphate dehydrogenase 2

There are no transcripts associated with this gene.

Gene: MIR191
Gene Name: microRNA 191

There are no transcripts associated with this gene.

Gene: MIR425
Gene Name: microRNA 425

There are no transcripts associated with this gene.

Gene: NDUFAF3
Gene Name: NADH:ubiquinone oxidoreductase complex assembly factor 3

There are no transcripts associated with this gene.

Gene: P4HTM
Gene Name: prolyl 4-hydroxylase, transmembrane

There are no transcripts associated with this gene.

Gene: WDR6
Gene Name: WD repeat domain 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320546.1	1761	Intron			NP_001307475.1
NM_001320547.1	1761	Intron			NP_001307476.1
NM_018031.4	1761	Intron			NP_060501.3

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