Product Details

SNP ID

rs188624178

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28703583 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAACTGAGGTTGGGGTTTGATCCT[G/T]GGGGAGATTTTCTCTTGTTTACCTT

Phenotype

MIM: 601333

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PROCA1 PubMed Links

Gene Details

Gene

PROCA1

Gene Name

protein interacting with cyclin A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304949.1	1200	Missense Mutation	CAA,CCA	Q320P	NP_001291878.1
NM_001304951.1	1200	Missense Mutation	CAA,CCA	Q213P	NP_001291880.1
NM_001304952.1	1200	Missense Mutation	CAA,CCA	Q331P	NP_001291881.1
NM_001304953.1	1200	Missense Mutation	CAA,CCA	Q257P	NP_001291882.1
NM_001304954.1	1200	Missense Mutation	CAA,CCA	Q257P	NP_001291883.1
NM_152465.2	1200	Missense Mutation	CAA,CCA	Q329P	NP_689678.1
XM_005257927.4	1200	Missense Mutation	CAA,CCA	Q357P	XP_005257984.1
XM_006721723.3	1200	Missense Mutation	CAA,CCA	Q354P	XP_006721786.1
XM_011524398.2	1200	Missense Mutation	CAA,CCA	Q348P	XP_011522700.1
XM_011524399.2	1200	Missense Mutation	CAA,CCA	Q320P	XP_011522701.1
XM_011524400.2	1200	Missense Mutation	CAA,CCA	Q303P	XP_011522702.1
XM_011524401.1	1200	Missense Mutation	CAA,CCA	Q257P	XP_011522703.1
XM_017024237.1	1200	Missense Mutation	CAA,CCA	Q257P	XP_016879726.1

Gene

SUPT6H

Gene Name

SPT6 homolog, histone chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320755.1	1200	Intron			NP_001307684.1
NM_003170.4	1200	Intron			NP_003161.2
XM_017024978.1	1200	Intron			XP_016880467.1
XM_017024979.1	1200	Intron			XP_016880468.1
XM_017024980.1	1200	Intron			XP_016880469.1

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