Product Details

SNP ID

rs144192553

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:113965279 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTACCTTCCTACGAAGTTGCTGT[C/T]GCCTTTCTTCTTTTACTCTTTCCTC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC191 PubMed Links

Gene Details

Gene

CCDC191

Gene Name

coiled-coil domain containing 191

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020817.1	2776	Missense Mutation	CAA,CGA	Q896R	NP_065868.1
XM_005247681.3	2776	Missense Mutation	CAA,CGA	Q575R	XP_005247738.1
XM_006713715.1	2776	Missense Mutation	CAA,CGA	Q883R	XP_006713778.1
XM_011513051.1	2776	Missense Mutation	CAA,CGA	Q854R	XP_011511353.1
XM_011513052.2	2776	Missense Mutation	CAA,CGA	Q834R	XP_011511354.1
XM_011513053.1	2776	Missense Mutation	CAA,CGA	Q811R	XP_011511355.1
XM_011513054.2	2776	Missense Mutation	CAA,CGA	Q811R	XP_011511356.1
XM_017006956.1	2776	Missense Mutation	CAA,CGA	Q874R	XP_016862445.1
XM_017006957.1	2776	Missense Mutation	CAA,CGA	Q811R	XP_016862446.1
XM_017006958.1	2776	Missense Mutation	CAA,CGA	Q811R	XP_016862447.1
XM_017006959.1	2776	Missense Mutation	CAA,CGA	Q496R	XP_016862448.1

Gene

ZDHHC23

Gene Name

zinc finger DHHC-type containing 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320466.1	2776	Intron			NP_001307395.1
NM_001320467.1	2776	Intron			NP_001307396.1
NM_001320468.1	2776	Intron			NP_001307397.1
NM_173570.4	2776	Intron			NP_775841.2
XM_005247269.1	2776	Intron			XP_005247326.1
XM_005247270.3	2776	Intron			XP_005247327.1
XM_006713562.3	2776	Intron			XP_006713625.1
XM_011512618.2	2776	Intron			XP_011510920.1
XM_011512619.1	2776	Intron			XP_011510921.1
XM_017006084.1	2776	Intron			XP_016861573.1
XM_017006085.1	2776	Intron			XP_016861574.1
XM_017006086.1	2776	Intron			XP_016861575.1
XM_017006087.1	2776	Intron			XP_016861576.1

View Full Product Details