Product Details

SNP ID

rs79223253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28703659 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTTTTTGGCCTGGACTGTGTTCT[C/G]TCTCTTCCTGGGCGATGATGATTCC

Phenotype

MIM: 601333

Polymorphism

C/G, 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	1124	Missense Mutation	CAG,GAG	Q295E	NP_001291878.1
NM_001304951.1	1124	Missense Mutation	CAG,GAG	Q188E	NP_001291880.1
NM_001304952.1	1124	Missense Mutation	CAG,GAG	Q306E	NP_001291881.1
NM_001304953.1	1124	Missense Mutation	CAG,GAG	Q232E	NP_001291882.1
NM_001304954.1	1124	Missense Mutation	CAG,GAG	Q232E	NP_001291883.1
NM_152465.2	1124	Missense Mutation	CAG,GAG	Q304E	NP_689678.1
XM_005257927.4	1124	Missense Mutation	CAG,GAG	Q332E	XP_005257984.1
XM_006721723.3	1124	Missense Mutation	CAG,GAG	Q329E	XP_006721786.1
XM_011524398.2	1124	Missense Mutation	CAG,GAG	Q323E	XP_011522700.1
XM_011524399.2	1124	Missense Mutation	CAG,GAG	Q295E	XP_011522701.1
XM_011524400.2	1124	Missense Mutation	CAG,GAG	Q278E	XP_011522702.1
XM_011524401.1	1124	Missense Mutation	CAG,GAG	Q232E	XP_011522703.1
XM_017024237.1	1124	Missense Mutation	CAG,GAG	Q232E	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	1124	Intron			NP_001307684.1
NM_003170.4	1124	Intron			NP_003161.2
XM_017024978.1	1124	Intron			XP_016880467.1
XM_017024979.1	1124	Intron			XP_016880468.1
XM_017024980.1	1124	Intron			XP_016880469.1

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