Product Details

SNP ID

rs200478641

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:77508395 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGTCCTGGATTTTTGCTTCTCA[C/T]TGGGGGTGGTGCACGCTGTAATGGT

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	7717	Missense Mutation	ATG,GTG	M2479V	NP_000480.3
NM_138270.3	7717	Missense Mutation	ATG,GTG	M2441V	NP_612114.2
XM_005262153.4	7717	Missense Mutation	ATG,GTG	M2478V	XP_005262210.2
XM_005262154.4	7717	Missense Mutation	ATG,GTG	M2450V	XP_005262211.2
XM_005262155.4	7717	Missense Mutation	ATG,GTG	M2440V	XP_005262212.2
XM_005262156.4	7717	Missense Mutation	ATG,GTG	M2424V	XP_005262213.2
XM_005262157.4	7717	Missense Mutation	ATG,GTG	M2411V	XP_005262214.2
XM_006724666.3	7717	Missense Mutation	ATG,GTG	M2440V	XP_006724729.1
XM_006724667.3	7717	Missense Mutation	ATG,GTG	M2386V	XP_006724730.1
XM_006724668.2	7717	Intron			XP_006724731.1
XM_017029601.1	7717	Missense Mutation	ATG,GTG	M2449V	XP_016885090.1
XM_017029602.1	7717	Missense Mutation	ATG,GTG	M2439V	XP_016885091.1
XM_017029603.1	7717	Missense Mutation	ATG,GTG	M2423V	XP_016885092.1
XM_017029604.1	7717	Missense Mutation	ATG,GTG	M2412V	XP_016885093.1
XM_017029605.1	7717	Missense Mutation	ATG,GTG	M2411V	XP_016885094.1
XM_017029606.1	7717	Missense Mutation	ATG,GTG	M2402V	XP_016885095.1
XM_017029607.1	7717	Missense Mutation	ATG,GTG	M2401V	XP_016885096.1
XM_017029608.1	7717	Missense Mutation	ATG,GTG	M2385V	XP_016885097.1
XM_017029609.1	7717	Missense Mutation	ATG,GTG	M2373V	XP_016885098.1
XM_017029610.1	7717	Missense Mutation	ATG,GTG	M2372V	XP_016885099.1
XM_017029611.1	7717	Missense Mutation	ATG,GTG	M2357V	XP_016885100.1

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