Product Details

SNP ID

rs201999702

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:94061446 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTCCTGAGCGGCGGCCTGGGCAG[G/T]TCCCCGTTCTTGCCGATGCCCATGT

Phenotype

MIM: 608922 MIM: 616588

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ARL13B PubMed Links

Gene Details

Gene

ARL13B

Gene Name

ADP ribosylation factor like GTPase 13B

There are no transcripts associated with this gene.

Gene

DHFR2

Gene Name

dihydrofolate reductase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195643.1	516	Missense Mutation	GAA,GAC	E22D	NP_001182572.1
NM_176815.4	516	Missense Mutation	GAA,GAC	E22D	NP_789785.1
XM_011512537.2	516	Missense Mutation	GAA,GAC	E22D	XP_011510839.1

Gene

NSUN3

Gene Name

NOP2/Sun RNA methyltransferase family member 3

There are no transcripts associated with this gene.

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