Product Details

SNP ID

rs145667000

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:42302255 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAGGGACATCCAGCGCCCGTCGC[C/T]CTGTACGTCCTGCACCGGCGTGGGC

Phenotype

MIM: 612082 MIM: 603074

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CIC PubMed Links

Gene Details

Gene

CIC

Gene Name

capicua transcriptional repressor

There are no transcripts associated with this gene.

Gene

PAFAH1B3

Gene Name

platelet activating factor acetylhydrolase 1b catalytic subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145939.1	390	Missense Mutation	AGC,GGC	S19G	NP_001139411.1
NM_001145940.1	390	Missense Mutation	AGC,GGC	S19G	NP_001139412.1
NM_002573.3	390	Missense Mutation	AGC,GGC	S19G	NP_002564.1
XM_017026846.1	390	Missense Mutation	AGC,GGC	S19G	XP_016882335.1
XM_017026847.1	390	Missense Mutation	AGC,GGC	S19G	XP_016882336.1
XM_017026848.1	390	Missense Mutation	AGC,GGC	S19G	XP_016882337.1

Gene

PRR19

Gene Name

proline rich 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_199285.2	390	UTR 5			NP_954979.2
XM_005258779.4	390	Intron			XP_005258836.2
XM_005258780.3	390	Intron			XP_005258837.1
XM_006723154.3	390	Intron			XP_006723217.1
XM_011526787.1	390	Intron			XP_011525089.1
XM_011526788.1	390	Intron			XP_011525090.1
XM_011526789.2	390	Intron			XP_011525091.1
XM_011526790.2	390	Intron			XP_011525092.1

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