Variant ID: 12-102590880-C-T

NM_002674.2(PMCH):c.319G>A;(p.Ala107Thr)

This variant was identified in 1 publication




Publications:


A single-nucleotide polymorphism of human neuropeptide s gene originated from Europe shows decreased bioactivity.

Plos One
C Deng, X He, AJ Hsueh
Publication Date: 2013

Variant appearance in text: rs140010118
PubMed Link: 24386135
Variant Present in the following documents:
  • pone.0083009.s005.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000327680.2 c.*811C>T - 3_prime_UTR_variant 12/12 -
ENST00000329406.4 c.319G>A p.Ala107Thr missense_variant 2/3 -
ENST00000378128.3 c.*1079C>T - 3_prime_UTR_variant 7/7 -
ENST00000412715.2 c.*1079C>T - 3_prime_UTR_variant 6/6 -
ENST00000417507.2 c.*1143C>T - 3_prime_UTR_variant 7/7 -
ENST00000457614.2 c.*1865C>T - 3_prime_UTR_variant,NMD_transcript_variant 8/8 -
ENST00000535811.1 n.1206C>T - non_coding_transcript_exon_variant 2/2 -
NM_001319988.1 c.*811C>T - 3_prime_UTR_variant 12/12 -
NM_001319993.1 c.*811C>T - 3_prime_UTR_variant 12/12 -
NM_001319994.1 c.*811C>T - 3_prime_UTR_variant 11/11 -
NM_002674.4 c.319G>A p.Ala107Thr missense_variant 2/3 -
NM_017915.4 c.*811C>T - 3_prime_UTR_variant 11/11 -
NR_135123.1 n.1750C>T - non_coding_transcript_exon_variant 5/5 -