Product Details

SNP ID

rs60586642

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:45328351 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCATTCGCCTCACAAACAACCAC[A/C]GAACCACAAGTGCGGTGCAAACTTT

Phenotype

MIM: 600211 MIM: 602947

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RUNX2 PubMed Links

Gene Details

Gene

RUNX2

Gene Name

runt related transcription factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015051.3	210	UTR 5			NP_001015051.3
NM_001024630.3	210	UTR 5			NP_001019801.3
NM_001278478.1	210	Intron			NP_001265407.1
XM_006715232.1	210	Intron			XP_006715295.1
XM_011514960.2	210	Missense Mutation	CAG,CCG	Q10P	XP_011513262.1
XM_011514961.2	210	Missense Mutation	CAG,CCG	Q10P	XP_011513263.1
XM_011514962.2	210	Missense Mutation	CAG,CCG	Q10P	XP_011513264.1
XM_011514963.2	210	Missense Mutation	CAG,CCG	Q10P	XP_011513265.1
XM_011514964.2	210	Missense Mutation	CAG,CCG	Q10P	XP_011513266.1
XM_011514965.2	210	Missense Mutation	CAG,CCG	Q10P	XP_011513267.1
XM_011514966.2	210	Intron			XP_011513268.1
XM_017011391.1	210	UTR 5			XP_016866880.1
XM_017011392.1	210	Intron			XP_016866881.1
XM_017011393.1	210	Missense Mutation	CAG,CCG	Q10P	XP_016866882.1
XM_017011394.1	210	Missense Mutation	CAG,CCG	Q10P	XP_016866883.1
XM_017011395.1	210	Missense Mutation	CAG,CCG	Q10P	XP_016866884.1
XM_017011396.1	210	Intron			XP_016866885.1

Gene

SUPT3H

Gene Name

SPT3 homolog, SAGA and STAGA complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261823.1	210	Intron			NP_001248752.1
NM_003599.3	210	Intron			NP_003590.1
NM_181356.2	210	Intron			NP_852001.1
XM_011514949.2	210	Intron			XP_011513251.1
XM_011514950.1	210	Intron			XP_011513252.1
XM_011514951.2	210	Intron			XP_011513253.1
XM_011514952.2	210	Intron			XP_011513254.1
XM_011514953.2	210	Intron			XP_011513255.1
XM_011514954.2	210	Intron			XP_011513256.1
XM_017011369.1	210	Intron			XP_016866858.1
XM_017011370.1	210	Intron			XP_016866859.1
XM_017011371.1	210	Intron			XP_016866860.1
XM_017011372.1	210	Intron			XP_016866861.1
XM_017011373.1	210	Intron			XP_016866862.1
XM_017011374.1	210	Intron			XP_016866863.1

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