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Table 2 Polymorphisms detected by DHPLC in screened human NCX1 non-coding regions

From: Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits

Analyzed regions

Detected variants1

    

Contig positions in Chr. 22

Length (bp)

Location

Alleles3

HYPEST

(hom/het)4

CADCZ

(hom/het)4

Validation/

rs-number2

Targeted by genotyping platform5

40349616

293

intron 2

A/g

ND

1/4

novel

NA

40335702-40335701

348

intron 2

14 bp indel6

0/3

0/7

rs112748046

NA

40335650

348

intron 2

C/g

0/1

0/1

novel

NA

40407194

387

intron 2

C/g

0/1

1/3

rs72943138

Illumina

40277948

370

intron 2

T/c

3/6

0/2

rs449383

Affymetrix GeneChip

40475254

469

intron 2

A/t

3/9

0/1

rs2192773

Illumina

40301091

292

intron 2

a/G

ND

1/1

rs2540904

Illumina

40246617

282

intron 4

T/c

ND

0/1

novel

NA

40514809

489

intron 10

A/g

3/9

0/5

rs4952414

Illumina

40514961

489

intron 10

c/T

0/1

ND

rs17026003

Affymetrix GeneChip

  1. 1Polymorphism screening was performed using HYPEST (n = 22) and CADCZ (n = 24) cases. Detailed description of all targeted genomic regions and detected variants is given in additional file 1.
  2. 2Contig positions and rs-numbers of the validated SNPs are given according to the Simple Nucleotide Polymorphisms database (dbSNP build 129; Human Genome March 2006).
  3. 3Major and minor alleles are indicated with capital and lower case letters, respectively.
  4. 4Number of number of homozygotes/heterozygotes (hom/het) of each identified polymorphism among the screened individuals
  5. 5Commercial genotyping platforms, which include the described variants (according to NCBI database)
  6. 6the 14 bp indel: CATTCCCTCTCCAT/-
  7. ND - not detected; NA - not available