Variant ID: 1-230820578-G-A

NM_007357.2(COG2):c.1229-253G>A

This variant was identified in 2 publications




Publications:


Proposed nomenclature for microhaplotypes.

Human Genomics
KK Kidd
Publication Date: 2016-06-17

Variant appearance in text: rs2296796
PubMed Link: 27316555
Variant Present in the following documents:
  • 40246_2016_78_MOESM1_ESM.xlsx
View BVdb publication page



Inference of human continental origin and admixture proportions using a highly discriminative ancestry informative 41-SNP panel.

Investigative Genetics
CM Nievergelt, AX Maihofer, T Shekhtman, O Libiger, X Wang, KK Kidd, JR Kidd
Publication Date: 2013-07-01

Variant appearance in text: rs2296796
PubMed Link: 23815888
Variant Present in the following documents:
  • 2041-2223-4-13-S2.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.1229-253G>A - intron_variant - 11/17
ENST00000366669.4 c.1229-253G>A - intron_variant - 11/17
ENST00000468893.2 c.*1087-253G>A - intron_variant,NMD_transcript_variant - 12/18
ENST00000482012.1 n.119-253G>A - intron_variant,non_coding_transcript_variant - 1/4
ENST00000534989.1 c.1052-253G>A - intron_variant - 11/17
ENST00000535166.1 c.881-253G>A - intron_variant - 12/18
ENST00000546013.1 c.296-253G>A - intron_variant - 3/9
NM_001145036.2 c.1229-253G>A - intron_variant - 11/17
NM_007357.3 c.1229-253G>A - intron_variant - 11/17