Product Details

SNP ID

rs201244536

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:799060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCACCTCTTTCTTCATCTGTGG[C/G]ACGTCCCACTCCTCCATGGGGTCAG

Phenotype

MIM: 613201 MIM: 607298

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CHTF18 PubMed Links

Gene Details

Gene

CHTF18

Gene Name

chromosome transmission fidelity factor 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022092.2	120	Intron			NP_071375.1
XM_005255470.1	120	Intron			XP_005255527.1
XM_005255471.3	120	Intron			XP_005255528.1
XM_011522572.1	120	Intron			XP_011520874.1
XM_011522573.1	120	Intron			XP_011520875.1
XM_017023532.1	120	Intron			XP_016879021.1
XM_017023533.1	120	Intron			XP_016879022.1
XM_017023534.1	120	Intron			XP_016879023.1

Gene

GNG13

Gene Name

G protein subunit gamma 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016541.2	120	Silent Mutation	GTC,GTG	V6V	NP_057625.1

Gene

PRR25

Gene Name

proline rich 25

There are no transcripts associated with this gene.

View Full Product Details