Product Details

SNP ID

rs150107747

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:20161719 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCGCTACCTATTCGTGCCAATAT[A/T]TCCTCTGGTGTATCATCAGGACCAT

Phenotype

MIM: 300075

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

RPS6KA3 PubMed Links

Gene Details

Gene

RPS6KA3

Gene Name

ribosomal protein S6 kinase A3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004586.2	2067	Missense Mutation	GAA,GAT	E628D	NP_004577.1
XM_005274573.2	2067	Missense Mutation	GAA,GAT	E627D	XP_005274630.1
XM_005274577.2	2067	Missense Mutation	GAA,GAT	E598D	XP_005274634.1
XM_006724507.3	2067	Missense Mutation	GAA,GAT	E599D	XP_006724570.1
XM_011545555.1	2067	Missense Mutation	GAA,GAT	E634D	XP_011543857.1
XM_011545556.1	2067	Missense Mutation	GAA,GAT	E633D	XP_011543858.1
XM_011545557.2	2067	Missense Mutation	GAA,GAT	E606D	XP_011543859.1
XM_011545558.2	2067	Missense Mutation	GAA,GAT	E606D	XP_011543860.1
XM_011545559.1	2067	Missense Mutation	GAA,GAT	E606D	XP_011543861.1
XM_011545560.1	2067	Missense Mutation	GAA,GAT	E606D	XP_011543862.1
XM_011545561.1	2067	Missense Mutation	GAA,GAT	E606D	XP_011543863.1
XM_011545562.1	2067	Missense Mutation	GAA,GAT	E605D	XP_011543864.1
XM_011545563.2	2067	Missense Mutation	GAA,GAT	E600D	XP_011543865.1
XM_017029713.1	2067	Missense Mutation	GAA,GAT	E600D	XP_016885202.1
XM_017029714.1	2067	Missense Mutation	GAA,GAT	E600D	XP_016885203.1
XM_017029715.1	2067	Missense Mutation	GAA,GAT	E600D	XP_016885204.1
XM_017029716.1	2067	Missense Mutation	GAA,GAT	E600D	XP_016885205.1
XM_017029717.1	2067	Missense Mutation	GAA,GAT	E600D	XP_016885206.1
XM_017029718.1	2067	Missense Mutation	GAA,GAT	E599D	XP_016885207.1
XM_017029719.1	2067	Missense Mutation	GAA,GAT	E599D	XP_016885208.1

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