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SNP ID

rs200114460

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28703850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGGCTCCAATTTAACCGGGCTT[C/T]TCTTCTTAGTCAACTGGCCTTTCTT

Phenotype

MIM: 601333

Polymorphism

C/T, Transition 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	933	Missense Mutation	AAA,AGA	K231R	NP_001291878.1
NM_001304951.1	933	Missense Mutation	AAA,AGA	K124R	NP_001291880.1
NM_001304952.1	933	Missense Mutation	AAA,AGA	K242R	NP_001291881.1
NM_001304953.1	933	Missense Mutation	AAA,AGA	K168R	NP_001291882.1
NM_001304954.1	933	Missense Mutation	AAA,AGA	K168R	NP_001291883.1
NM_152465.2	933	Missense Mutation	AAA,AGA	K240R	NP_689678.1
XM_005257927.4	933	Missense Mutation	AAA,AGA	K268R	XP_005257984.1
XM_006721723.3	933	Missense Mutation	AAA,AGA	K265R	XP_006721786.1
XM_011524398.2	933	Missense Mutation	AAA,AGA	K259R	XP_011522700.1
XM_011524399.2	933	Missense Mutation	AAA,AGA	K231R	XP_011522701.1
XM_011524400.2	933	Missense Mutation	AAA,AGA	K214R	XP_011522702.1
XM_011524401.1	933	Missense Mutation	AAA,AGA	K168R	XP_011522703.1
XM_017024237.1	933	Missense Mutation	AAA,AGA	K168R	XP_016879726.1

Gene

SUPT6H

Gene Name

SPT6 homolog, histone chaperone

There are no transcripts associated with this gene.

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