rs2359612

Description

The haplotypes for this gene have not yet been standardized by a nomenclature committee, therefore we report annotations according to the locations measured. This variant is also described as 7566T/C on AY587020 (Rieder et al [Article:15930419]) and M19 or c.283+837 in Geisen et al 2005 [Article:16270629] and is a G/A variant when reported on the plus chromosomal stand. In Geisen et al, haplotypes *1, *3 and *4 all have the G at this position (complemented to plus strand) and *2 haplotypes have A at this position (complemented to plus strand)[Article:16270629]. In Rieder et al, haplotypes H1, H2, H4 and H5 have the A variant at this position and H3,H6,H7,H8 and H9 all have the G (complemented to plus strand) [Article:15930419].

Associated Genes

Type

Snp

Classification

Intronic

Locations

AssemblySequencePositionAllelesSource
GRCh38NC_000016.10(opens in new window)31092475
  • A > G
dbSnp
GRCh37NC_000016.9(opens in new window)31103796
  • A > G
dbSnp
NG_011564.1(opens in new window)7481
  • T > C
dbSnp

Variant Frequencies

Identifiers

PharmGKB ID

PA166155040

Aliases

  • rs17884333 (retired)
  • NC_000016.10:g.31092475A>G
  • NC_000016.9:g.31103796A>G
  • NG_011564.1:g.7481T>C
  • NM_001311311.1:c.367+308T>C
  • NM_024006.5:c.283+837T>C
  • NM_206824.2:c.174-1133T>C
  • XM_005255568.1:c.367+308T>C
  • XM_011545943.1:c.367+308T>C
  • XM_011545944.1:c.283+837T>C
  • XM_011545945.1:c.174-1133T>C
  • XR_243303.1:n.832+837T>C
  • XR_950848.1:n.1071+837T>C
  • rs17884333

History

No history available.