Product Details

SNP ID

rs112385254

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:77520815 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGTTGTTTTGTCAATACATCATT[A/G]TAGATTGCTTCTCTTCGTTTAACAT

Phenotype

MIM: 300504 MIM: 300032

Polymorphism

A/G, 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	7455	Silent Mutation	TAC,TAT	Y2391Y	NP_000480.3
NM_138270.3	7455	Silent Mutation	TAC,TAT	Y2353Y	NP_612114.2
XM_005262153.4	7455	Silent Mutation	TAC,TAT	Y2390Y	XP_005262210.2
XM_005262154.4	7455	Silent Mutation	TAC,TAT	Y2362Y	XP_005262211.2
XM_005262155.4	7455	Silent Mutation	TAC,TAT	Y2352Y	XP_005262212.2
XM_005262156.4	7455	Silent Mutation	TAC,TAT	Y2336Y	XP_005262213.2
XM_005262157.4	7455	Silent Mutation	TAC,TAT	Y2323Y	XP_005262214.2
XM_006724666.3	7455	Silent Mutation	TAC,TAT	Y2352Y	XP_006724729.1
XM_006724667.3	7455	Silent Mutation	TAC,TAT	Y2298Y	XP_006724730.1
XM_006724668.2	7455	Intron			XP_006724731.1
XM_017029601.1	7455	Silent Mutation	TAC,TAT	Y2361Y	XP_016885090.1
XM_017029602.1	7455	Silent Mutation	TAC,TAT	Y2351Y	XP_016885091.1
XM_017029603.1	7455	Silent Mutation	TAC,TAT	Y2335Y	XP_016885092.1
XM_017029604.1	7455	Silent Mutation	TAC,TAT	Y2324Y	XP_016885093.1
XM_017029605.1	7455	Silent Mutation	TAC,TAT	Y2323Y	XP_016885094.1
XM_017029606.1	7455	Silent Mutation	TAC,TAT	Y2314Y	XP_016885095.1
XM_017029607.1	7455	Silent Mutation	TAC,TAT	Y2313Y	XP_016885096.1
XM_017029608.1	7455	Silent Mutation	TAC,TAT	Y2297Y	XP_016885097.1
XM_017029609.1	7455	Silent Mutation	TAC,TAT	Y2285Y	XP_016885098.1
XM_017029610.1	7455	Silent Mutation	TAC,TAT	Y2284Y	XP_016885099.1
XM_017029611.1	7455	Silent Mutation	TAC,TAT	Y2269Y	XP_016885100.1

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