Product Details

SNP ID

rs144692012

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:189676806 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAGAGGTCCATCAAATGATAAGA[A/G]AGTTGGCTATTGGAATTTATTGCCT

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	890	Missense Mutation	AAG,GAG	K106E	NP_653309.3
XM_011510673.2	890	Missense Mutation	AAG,GAG	K106E	XP_011508975.1
XM_011510674.1	890	Missense Mutation	AAG,GAG	K106E	XP_011508976.1
XM_011510675.2	890	Missense Mutation	AAG,GAG	K106E	XP_011508977.1
XM_011510676.2	890	Missense Mutation	AAG,GAG	K106E	XP_011508978.1
XM_011510677.2	890	Missense Mutation	AAG,GAG	K106E	XP_011508979.1
XM_011510679.2	890	Missense Mutation	AAG,GAG	K106E	XP_011508981.1
XM_011510680.1	890	Missense Mutation	AAG,GAG	K106E	XP_011508982.1
XM_011510681.1	890	Missense Mutation	AAG,GAG	K106E	XP_011508983.1
XM_011510682.2	890	Missense Mutation	AAG,GAG	K106E	XP_011508984.1
XM_011510685.2	890	Intron			XP_011508987.1
XM_011510686.2	890	Missense Mutation	AAG,GAG	K106E	XP_011508988.1
XM_011510687.2	890	Intron			XP_011508989.1
XM_011510688.1	890	Missense Mutation	AAG,GAG	K106E	XP_011508990.1
XM_011510689.2	890	Missense Mutation	AAG,GAG	K106E	XP_011508991.1
XM_011510691.2	890	Intron			XP_011508993.1
XM_011510692.2	890	Intron			XP_011508994.1
XM_011510693.2	890	Intron			XP_011508995.1
XM_011510694.2	890	Intron			XP_011508996.1
XM_017003413.1	890	Missense Mutation	AAG,GAG	K106E	XP_016858902.1
XM_017003414.1	890	Missense Mutation	AAG,GAG	K106E	XP_016858903.1
XM_017003415.1	890	Intron			XP_016858904.1
XM_017003416.1	890	Intron			XP_016858905.1
XM_017003417.1	890	Missense Mutation	AAG,GAG	K106E	XP_016858906.1
XM_017003418.1	890	Intron			XP_016858907.1
XM_017003419.1	890	Intron			XP_016858908.1
XM_017003420.1	890	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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