Product Details

SNP ID

rs200021121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28703808 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCAGCTGTCTTGCGCTTAATGAT[C/G]GGCTCACGTCTGGCGGGGAAGGCTC

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	975	Missense Mutation	CCA,CGA	P245R	NP_001291878.1
NM_001304951.1	975	Missense Mutation	CCA,CGA	P138R	NP_001291880.1
NM_001304952.1	975	Missense Mutation	CCA,CGA	P256R	NP_001291881.1
NM_001304953.1	975	Missense Mutation	CCA,CGA	P182R	NP_001291882.1
NM_001304954.1	975	Missense Mutation	CCA,CGA	P182R	NP_001291883.1
NM_152465.2	975	Missense Mutation	CCA,CGA	P254R	NP_689678.1
XM_005257927.4	975	Missense Mutation	CCA,CGA	P282R	XP_005257984.1
XM_006721723.3	975	Missense Mutation	CCA,CGA	P279R	XP_006721786.1
XM_011524398.2	975	Missense Mutation	CCA,CGA	P273R	XP_011522700.1
XM_011524399.2	975	Missense Mutation	CCA,CGA	P245R	XP_011522701.1
XM_011524400.2	975	Missense Mutation	CCA,CGA	P228R	XP_011522702.1
XM_011524401.1	975	Missense Mutation	CCA,CGA	P182R	XP_011522703.1
XM_017024237.1	975	Missense Mutation	CCA,CGA	P182R	XP_016879726.1

Gene

SUPT6H

Gene Name

SPT6 homolog, histone chaperone

There are no transcripts associated with this gene.

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