Variant ID: 12-102590861-G-A

NM_002674.2(PMCH):c.338C>T;(p.Ala113Val)

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: rs146053800
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.*792G>A - 3_prime_UTR_variant 12/12 -
ENST00000329406.4 c.338C>T p.Ala113Val missense_variant 2/3 -
ENST00000378128.3 c.*1060G>A - 3_prime_UTR_variant 7/7 -
ENST00000412715.2 c.*1060G>A - 3_prime_UTR_variant 6/6 -
ENST00000417507.2 c.*1124G>A - 3_prime_UTR_variant 7/7 -
ENST00000457614.2 c.*1846G>A - 3_prime_UTR_variant,NMD_transcript_variant 8/8 -
ENST00000535811.1 n.1187G>A - non_coding_transcript_exon_variant 2/2 -
NM_001319988.1 c.*792G>A - 3_prime_UTR_variant 12/12 -
NM_001319993.1 c.*792G>A - 3_prime_UTR_variant 12/12 -
NM_001319994.1 c.*792G>A - 3_prime_UTR_variant 11/11 -
NM_002674.4 c.338C>T p.Ala113Val missense_variant 2/3 -
NM_017915.4 c.*792G>A - 3_prime_UTR_variant 11/11 -
NR_135123.1 n.1731G>A - non_coding_transcript_exon_variant 5/5 -