Product Details

SNP ID: rs200286243
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:33658765 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCCCCTGTGAAGTCCACATAGCAGC[A/G]CAGGGCTCGGTGGAAGTCCTGCAGG
Phenotype: MIM: 603672 MIM: 612478
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ACTL10 PubMed Links

Gene Details

Gene: ACTL10
Gene Name: actin like 10

There are no transcripts associated with this gene.

Gene: C20orf144
Gene Name: chromosome 20 open reading frame 144

There are no transcripts associated with this gene.

Gene: CBFA2T2
Gene Name: CBFA2/RUNX1 translocation partner 2

There are no transcripts associated with this gene.

Gene: NECAB3
Gene Name: N-terminal EF-hand calcium binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031231.3	953	Missense Mutation	CGC,TGC	R283C	NP_112508.3
NM_031232.3	953	Missense Mutation	CGC,TGC	R317C	NP_112509.3
XM_005260510.1	953	Missense Mutation	CGC,TGC	R265C	XP_005260567.1
XM_011528991.1	953	Missense Mutation	CGC,TGC	R122C	XP_011527293.1
XM_011528992.2	953	Intron			XP_011527294.1
XM_017028015.1	953	Missense Mutation	CGC,TGC	R122C	XP_016883504.1
XM_017028016.1	953	Missense Mutation	CGC,TGC	R122C	XP_016883505.1

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