Product Details

SNP ID

rs182756690

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:4697347 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAGACTCACCCATCTCACGGACA[C/T]GGTCCTCCAGGGCTCCCGAGAGCTC

Phenotype

MIM: 607559

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANKS3 PubMed Links

Gene Details

Gene

ANKS3

Gene Name

ankyrin repeat and sterile alpha motif domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242929.1	1843	Missense Mutation	CAT,CGT	H520R	NP_001229858.1
NM_001308089.1	1843	Missense Mutation	CAT,CGT	H498R	NP_001295018.1
NM_001324129.1	1843	Missense Mutation	CAT,CGT	H454R	NP_001311058.1
NM_001324130.1	1843	Missense Mutation	CAT,CGT	H337R	NP_001311059.1
NM_133450.3	1843	Missense Mutation	CAT,CGT	H627R	NP_597707.1
XM_005255119.3	1843	Missense Mutation	CAT,CGT	H498R	XP_005255176.1
XM_005255121.3	1843	Missense Mutation	CAT,CGT	H421R	XP_005255178.1
XM_011522372.1	1843	Missense Mutation	CAT,CGT	H639R	XP_011520674.1
XM_011522373.1	1843	Missense Mutation	CAT,CGT	H627R	XP_011520675.1
XM_011522374.1	1843	Missense Mutation	CAT,CGT	H520R	XP_011520676.1
XM_011522378.1	1843	Missense Mutation	CAT,CGT	H421R	XP_011520680.1
XM_017022935.1	1843	Missense Mutation	CAT,CGT	H532R	XP_016878424.1
XM_017022936.1	1843	Missense Mutation	CAT,CGT	H421R	XP_016878425.1

Gene

MGRN1

Gene Name

mahogunin ring finger 1

There are no transcripts associated with this gene.

Gene

NUDT16L1

Gene Name

nudix hydrolase 16 like 1

There are no transcripts associated with this gene.

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