Variant ID: 16-3170210-T-A

NM_003456.2(ZNF205):c.1549T>A;(p.Ser517Thr)

This variant was identified in 1 publication




Publications:


Three Nonsynonymous Single Nucleotide Polymorphisms in the RhitH Gene Cause Reduction of the Repression Activity That Leads to Upregulation of M-LPH, a Participant in Mitochondrial Function.

Bioresearch Open Access
R Iida, M Ueki, J Fujihara, H Takeshita, K Kimura-Kataoka, T Yasuda
Publication Date: 2013-12-01

Variant appearance in text: ZNF205: Ser517Thr; rs148859377
PubMed Link: 24380054
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000219091.4 c.1549T>A p.Ser517Thr missense_variant 7/7 -
ENST00000382192.3 c.1549T>A p.Ser517Thr missense_variant 7/7 -
ENST00000575139.1 n.467-3690A>T - intron_variant,non_coding_transcript_variant - 4/4
ENST00000576490.1 n.122-3690A>T - intron_variant,non_coding_transcript_variant - 1/1
NM_001042428.2 c.1549T>A p.Ser517Thr missense_variant 7/7 -
NM_001278158.1 c.1549T>A p.Ser517Thr missense_variant 7/7 -
NM_003456.3 c.1549T>A p.Ser517Thr missense_variant 7/7 -