Product Details

SNP ID

rs184045774

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:189676668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTAGCTGGTTGTCTGCCAAAGAG[A/G]ATGTGCGCTCTCAAGTAGACCTCCC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144708.3	752	Missense Mutation	AAT,GAT	N60D	NP_653309.3
XM_011510673.2	752	Missense Mutation	AAT,GAT	N60D	XP_011508975.1
XM_011510674.1	752	Missense Mutation	AAT,GAT	N60D	XP_011508976.1
XM_011510675.2	752	Missense Mutation	AAT,GAT	N60D	XP_011508977.1
XM_011510676.2	752	Missense Mutation	AAT,GAT	N60D	XP_011508978.1
XM_011510677.2	752	Missense Mutation	AAT,GAT	N60D	XP_011508979.1
XM_011510679.2	752	Missense Mutation	AAT,GAT	N60D	XP_011508981.1
XM_011510680.1	752	Missense Mutation	AAT,GAT	N60D	XP_011508982.1
XM_011510681.1	752	Missense Mutation	AAT,GAT	N60D	XP_011508983.1
XM_011510682.2	752	Missense Mutation	AAT,GAT	N60D	XP_011508984.1
XM_011510685.2	752	Intron			XP_011508987.1
XM_011510686.2	752	Missense Mutation	AAT,GAT	N60D	XP_011508988.1
XM_011510687.2	752	Intron			XP_011508989.1
XM_011510688.1	752	Missense Mutation	AAT,GAT	N60D	XP_011508990.1
XM_011510689.2	752	Missense Mutation	AAT,GAT	N60D	XP_011508991.1
XM_011510691.2	752	Intron			XP_011508993.1
XM_011510692.2	752	Intron			XP_011508994.1
XM_011510693.2	752	Intron			XP_011508995.1
XM_011510694.2	752	Intron			XP_011508996.1
XM_017003413.1	752	Missense Mutation	AAT,GAT	N60D	XP_016858902.1
XM_017003414.1	752	Missense Mutation	AAT,GAT	N60D	XP_016858903.1
XM_017003415.1	752	Intron			XP_016858904.1
XM_017003416.1	752	Intron			XP_016858905.1
XM_017003417.1	752	Missense Mutation	AAT,GAT	N60D	XP_016858906.1
XM_017003418.1	752	Intron			XP_016858907.1
XM_017003419.1	752	Intron			XP_016858908.1
XM_017003420.1	752	Intron			XP_016858909.1

Gene

ASNSD1

Gene Name

asparagine synthetase domain containing 1

There are no transcripts associated with this gene.

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