Product Details

SNP ID

rs192340482

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:77508364 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTAGTGCAAAATCACATTGATTTC[C/T]CTTGGGAAGGTCCTGGATTTTTGCT

Phenotype

MIM: 300504 MIM: 300032

Polymorphism

C/T, 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	7748	Missense Mutation	GAG,GGG	E2489G	NP_000480.3
NM_138270.3	7748	Missense Mutation	GAG,GGG	E2451G	NP_612114.2
XM_005262153.4	7748	Missense Mutation	GAG,GGG	E2488G	XP_005262210.2
XM_005262154.4	7748	Missense Mutation	GAG,GGG	E2460G	XP_005262211.2
XM_005262155.4	7748	Missense Mutation	GAG,GGG	E2450G	XP_005262212.2
XM_005262156.4	7748	Missense Mutation	GAG,GGG	E2434G	XP_005262213.2
XM_005262157.4	7748	Missense Mutation	GAG,GGG	E2421G	XP_005262214.2
XM_006724666.3	7748	Missense Mutation	GAG,GGG	E2450G	XP_006724729.1
XM_006724667.3	7748	Missense Mutation	GAG,GGG	E2396G	XP_006724730.1
XM_006724668.2	7748	Intron			XP_006724731.1
XM_017029601.1	7748	Missense Mutation	GAG,GGG	E2459G	XP_016885090.1
XM_017029602.1	7748	Missense Mutation	GAG,GGG	E2449G	XP_016885091.1
XM_017029603.1	7748	Missense Mutation	GAG,GGG	E2433G	XP_016885092.1
XM_017029604.1	7748	Missense Mutation	GAG,GGG	E2422G	XP_016885093.1
XM_017029605.1	7748	Missense Mutation	GAG,GGG	E2421G	XP_016885094.1
XM_017029606.1	7748	Missense Mutation	GAG,GGG	E2412G	XP_016885095.1
XM_017029607.1	7748	Missense Mutation	GAG,GGG	E2411G	XP_016885096.1
XM_017029608.1	7748	Missense Mutation	GAG,GGG	E2395G	XP_016885097.1
XM_017029609.1	7748	Missense Mutation	GAG,GGG	E2383G	XP_016885098.1
XM_017029610.1	7748	Missense Mutation	GAG,GGG	E2382G	XP_016885099.1
XM_017029611.1	7748	Missense Mutation	GAG,GGG	E2367G	XP_016885100.1

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