Product Details

SNP ID

rs122445112

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:77523290 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATACTCAGCCCAAGCTGCTTTTC[T/C]TTCTTCTTCAGTCAACTCTTCTTCT

Phenotype

MIM: 300504 MIM: 300032

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

ATRX PubMed Links

Gene Details

Gene

ATRX

Gene Name

ATRX, chromatin remodeler

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000489.4	7093	Missense Mutation	AGA,GGA	R2271G	NP_000480.3
NM_138270.3	7093	Missense Mutation	AGA,GGA	R2233G	NP_612114.2
XM_005262153.4	7093	Missense Mutation	AGA,GGA	R2270G	XP_005262210.2
XM_005262154.4	7093	Missense Mutation	AGA,GGA	R2242G	XP_005262211.2
XM_005262155.4	7093	Missense Mutation	AGA,GGA	R2232G	XP_005262212.2
XM_005262156.4	7093	Missense Mutation	AGA,GGA	R2216G	XP_005262213.2
XM_005262157.4	7093	Missense Mutation	AGA,GGA	R2203G	XP_005262214.2
XM_006724666.3	7093	Missense Mutation	AGA,GGA	R2232G	XP_006724729.1
XM_006724667.3	7093	Missense Mutation	AGA,GGA	R2178G	XP_006724730.1
XM_006724668.2	7093	Intron			XP_006724731.1
XM_017029601.1	7093	Missense Mutation	AGA,GGA	R2241G	XP_016885090.1
XM_017029602.1	7093	Missense Mutation	AGA,GGA	R2231G	XP_016885091.1
XM_017029603.1	7093	Missense Mutation	AGA,GGA	R2215G	XP_016885092.1
XM_017029604.1	7093	Missense Mutation	AGA,GGA	R2204G	XP_016885093.1
XM_017029605.1	7093	Missense Mutation	AGA,GGA	R2203G	XP_016885094.1
XM_017029606.1	7093	Missense Mutation	AGA,GGA	R2194G	XP_016885095.1
XM_017029607.1	7093	Missense Mutation	AGA,GGA	R2193G	XP_016885096.1
XM_017029608.1	7093	Missense Mutation	AGA,GGA	R2177G	XP_016885097.1
XM_017029609.1	7093	Missense Mutation	AGA,GGA	R2165G	XP_016885098.1
XM_017029610.1	7093	Missense Mutation	AGA,GGA	R2164G	XP_016885099.1
XM_017029611.1	7093	Missense Mutation	AGA,GGA	R2149G	XP_016885100.1

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