Product Details

SNP ID

rs200039681

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:798981 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATCAGGCAGGTGGGGCACTCACT[C/T]GGGGATGGTCTTGGACGCCATCTCC

Phenotype

MIM: 613201 MIM: 607298

Polymorphism

C/T, Transition 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	199	Intron			NP_071375.1
XM_005255470.1	199	Intron			XP_005255527.1
XM_005255471.3	199	Intron			XP_005255528.1
XM_011522572.1	199	Intron			XP_011520874.1
XM_011522573.1	199	Intron			XP_011520875.1
XM_017023532.1	199	Intron			XP_016879021.1
XM_017023533.1	199	Intron			XP_016879022.1
XM_017023534.1	199	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	199	Missense Mutation	AAG,GAG	K33E	NP_057625.1

Gene

PRR25

Gene Name

proline rich 25

There are no transcripts associated with this gene.

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