Product Details

SNP ID

rs189717915

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:189676808 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGGTCCATCAAATGATAAGAGA[G/T]TTGGCTATTGGAATTTATTGCCTAA

Phenotype

MIM: 609803

Polymorphism

G/T, Transversion 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	892	Missense Mutation	GAG,GAT	E106D	NP_653309.3
XM_011510673.2	892	Missense Mutation	GAG,GAT	E106D	XP_011508975.1
XM_011510674.1	892	Missense Mutation	GAG,GAT	E106D	XP_011508976.1
XM_011510675.2	892	Missense Mutation	GAG,GAT	E106D	XP_011508977.1
XM_011510676.2	892	Missense Mutation	GAG,GAT	E106D	XP_011508978.1
XM_011510677.2	892	Missense Mutation	GAG,GAT	E106D	XP_011508979.1
XM_011510679.2	892	Missense Mutation	GAG,GAT	E106D	XP_011508981.1
XM_011510680.1	892	Missense Mutation	GAG,GAT	E106D	XP_011508982.1
XM_011510681.1	892	Missense Mutation	GAG,GAT	E106D	XP_011508983.1
XM_011510682.2	892	Missense Mutation	GAG,GAT	E106D	XP_011508984.1
XM_011510685.2	892	Intron			XP_011508987.1
XM_011510686.2	892	Missense Mutation	GAG,GAT	E106D	XP_011508988.1
XM_011510687.2	892	Intron			XP_011508989.1
XM_011510688.1	892	Missense Mutation	GAG,GAT	E106D	XP_011508990.1
XM_011510689.2	892	Missense Mutation	GAG,GAT	E106D	XP_011508991.1
XM_011510691.2	892	Intron			XP_011508993.1
XM_011510692.2	892	Intron			XP_011508994.1
XM_011510693.2	892	Intron			XP_011508995.1
XM_011510694.2	892	Intron			XP_011508996.1
XM_017003413.1	892	Missense Mutation	GAG,GAT	E106D	XP_016858902.1
XM_017003414.1	892	Missense Mutation	GAG,GAT	E106D	XP_016858903.1
XM_017003415.1	892	Intron			XP_016858904.1
XM_017003416.1	892	Intron			XP_016858905.1
XM_017003417.1	892	Missense Mutation	GAG,GAT	E106D	XP_016858906.1
XM_017003418.1	892	Intron			XP_016858907.1
XM_017003419.1	892	Intron			XP_016858908.1
XM_017003420.1	892	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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