Product Details

SNP ID

rs61729488

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49030471 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCATCTCAGTGCATAGTGCTTGCA[C/T]TGGCCACTGCGATGGCCTCCTGAAT

Phenotype

MIM: 146691 MIM: 615150 MIM: 612911

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DALRD3 PubMed Links

Gene Details

Gene

DALRD3

Gene Name

DALR anticodon binding domain containing 3

There are no transcripts associated with this gene.

Gene

IMPDH2

Gene Name

inosine monophosphate dehydrogenase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000884.2	2730	Intron			NP_000875.2
XM_006713128.3	2730	Intron			XP_006713191.1
XM_017006349.1	2730	Intron			XP_016861838.1
XM_017006350.1	2730	Intron			XP_016861839.1

Gene

MIR191

Gene Name

microRNA 191

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

QRICH1

Gene Name

glutamine rich 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320580.1	2730	Missense Mutation	AAT,AGT	N771S	NP_001307509.1
NM_001320581.1	2730	Missense Mutation	AAT,AGT	N771S	NP_001307510.1
NM_001320582.1	2730	Missense Mutation	AAT,AGT	N771S	NP_001307511.1
NM_001320583.1	2730	Missense Mutation	AAT,AGT	N771S	NP_001307512.1
NM_001320584.1	2730	Missense Mutation	AAT,AGT	N771S	NP_001307513.1
NM_001320585.1	2730	Missense Mutation	AAT,AGT	N771S	NP_001307514.1
NM_017730.3	2730	Missense Mutation	AAT,AGT	N771S	NP_060200.2
NM_198880.2	2730	Missense Mutation	AAT,AGT	N771S	NP_942581.1
XM_011533863.1	2730	Missense Mutation	AAT,AGT	N771S	XP_011532165.1

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