Product Details

SNP ID

rs146886286

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:189666257 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTAGTAAACAATTGTTAAAGTCTG[A/G]TGTTAACTACCAGTGTTTATTTTCT

Phenotype

MIM: 609803

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANKAR PubMed Links

Gene Details

Gene

ANKAR

Gene Name

ankyrin and armadillo repeat containing

There are no transcripts associated with this gene.

Gene

ASNSD1

Gene Name

asparagine synthetase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019048.2	1075	Missense Mutation	GAT,GGT	D42G	NP_061921.1
XM_017004381.1	1075	Missense Mutation	GAT,GGT	D42G	XP_016859870.1
XM_017004382.1	1075	Missense Mutation	GAT,GGT	D42G	XP_016859871.1

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