Product Details

SNP ID

rs199868044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89268558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGCACCTCGTTCACGCACAGGG[A/T]CTTGTGCCCGGCGGGGTCCAGTTCC

Phenotype

MIM: 611192

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ANKRD11 PubMed Links

Gene Details

Gene

ANKRD11

Gene Name

ankyrin repeat domain 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256182.1	8150	Missense Mutation	ACC,TCC	T2638S	NP_001243111.1
NM_001256183.1	8150	Missense Mutation	ACC,TCC	T2638S	NP_001243112.1
NM_013275.5	8150	Missense Mutation	ACC,TCC	T2638S	NP_037407.4
XM_006721181.1	8150	Missense Mutation	ACC,TCC	T2604S	XP_006721244.1
XM_006721184.2	8150	Missense Mutation	ACC,TCC	T2539S	XP_006721247.1
XM_011523051.2	8150	Missense Mutation	ACC,TCC	T2638S	XP_011521353.1
XM_011523053.2	8150	Missense Mutation	ACC,TCC	T2638S	XP_011521355.1
XM_011523054.2	8150	Missense Mutation	ACC,TCC	T2604S	XP_011521356.1
XM_011523055.2	8150	Missense Mutation	ACC,TCC	T2604S	XP_011521357.1
XM_011523056.2	8150	Missense Mutation	ACC,TCC	T2595S	XP_011521358.1
XM_011523057.2	8150	Intron			XP_011521359.1
XM_017023182.1	8150	Missense Mutation	ACC,TCC	T2638S	XP_016878671.1
XM_017023183.1	8150	Missense Mutation	ACC,TCC	T2638S	XP_016878672.1
XM_017023184.1	8150	Missense Mutation	ACC,TCC	T2638S	XP_016878673.1
XM_017023185.1	8150	Missense Mutation	ACC,TCC	T2638S	XP_016878674.1
XM_017023186.1	8150	Missense Mutation	ACC,TCC	T2638S	XP_016878675.1
XM_017023187.1	8150	Missense Mutation	ACC,TCC	T2638S	XP_016878676.1

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