Product Details

SNP ID

rs141244792

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:1309495 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGTGCCCAGCGACTTCCACGCTC[A/G]TCACGCAGCCACGTCCCGGACCTAC

Phenotype

MIM: 611354

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACAP3 PubMed Links

Gene Details

Gene

ACAP3

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

There are no transcripts associated with this gene.

Gene

CPSF3L

Gene Name

cleavage and polyadenylation specific factor 3-like

There are no transcripts associated with this gene.

Gene

MIR6727

Gene Name

microRNA 6727

There are no transcripts associated with this gene.

Gene

PUSL1

Gene Name

pseudouridylate synthase-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153339.1	395	Missense Mutation	CAT,CGT	H122R	NP_699170.1
XM_005244720.3	395	Missense Mutation	CAT,CGT	H122R	XP_005244777.1

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