Product Details

SNP ID

rs126014

Assay Type

Functionally tested

NCBI dbSNP Submissions

49

Location

Chr.1:28893666 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCCAGCAAGACCCCAGAGGCAGAGG[A/G]AGGGCAGGGTTCCCTCCTGGCTCAG

Phenotype

MIM: 130500

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EPB41 PubMed Links

Gene Details

Gene

EPB41

Gene Name

erythrocyte membrane protein band 4.1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166005.1	312	Intron			NP_001159477.1
NM_001166006.1	312	Intron			NP_001159478.1
NM_001166007.1	312	Intron			NP_001159479.1
NM_004437.3	312	Intron			NP_004428.1
NM_203342.2	312	Intron			NP_976217.1
NM_203343.2	312	Intron			NP_976218.1
XM_005245753.1	312	Intron			XP_005245810.1
XM_005245757.1	312	Intron			XP_005245814.1
XM_005245760.1	312	Intron			XP_005245817.1
XM_005245761.1	312	Intron			XP_005245818.1
XM_005245763.1	312	Intron			XP_005245820.1
XM_005245764.1	312	Intron			XP_005245821.1
XM_005245765.1	312	Intron			XP_005245822.1
XM_005245768.1	312	Intron			XP_005245825.1
XM_005245769.1	312	Intron			XP_005245826.1
XM_005245770.1	312	Intron			XP_005245827.1
XM_005245772.4	312	Intron			XP_005245829.1
XM_005245773.4	312	Intron			XP_005245830.1
XM_005245774.1	312	Intron			XP_005245831.1
XM_006710434.1	312	Intron			XP_006710497.1
XM_006710439.1	312	Intron			XP_006710502.1
XM_011540956.1	312	Intron			XP_011539258.1
XM_011540957.1	312	Intron			XP_011539259.1
XM_011540958.1	312	Intron			XP_011539260.1
XM_011540959.1	312	Intron			XP_011539261.1
XM_011540960.1	312	Intron			XP_011539262.1
XM_011540961.1	312	Intron			XP_011539263.1
XM_011540962.1	312	Intron			XP_011539264.1
XM_011540963.2	312	Intron			XP_011539265.1
XM_011540964.1	312	Intron			XP_011539266.1
XM_011540965.2	312	Intron			XP_011539267.1
XM_017000581.1	312	Intron			XP_016856070.1
XM_017000582.1	312	Intron			XP_016856071.1
XM_017000583.1	312	Intron			XP_016856072.1
XM_017000584.1	312	UTR 5			XP_016856073.1
XM_017000585.1	312	UTR 5			XP_016856074.1
XM_017000586.1	312	Intron			XP_016856075.1
XM_017000587.1	312	Intron			XP_016856076.1
XM_017000588.1	312	Intron			XP_016856077.1
XM_017000589.1	312	Intron			XP_016856078.1
XM_017000590.1	312	Intron			XP_016856079.1
XM_017000591.1	312	Intron			XP_016856080.1
XM_017000592.1	312	Intron			XP_016856081.1
XM_017000593.1	312	Intron			XP_016856082.1
XM_017000594.1	312	Intron			XP_016856083.1
XM_017000595.1	312	Intron			XP_016856084.1
XM_017000596.1	312	Intron			XP_016856085.1
XM_017000597.1	312	Intron			XP_016856086.1
XM_017000598.1	312	Intron			XP_016856087.1
XM_017000599.1	312	Intron			XP_016856088.1
XM_017000600.1	312	Intron			XP_016856089.1
XM_017000601.1	312	Intron			XP_016856090.1
XM_017000602.1	312	Intron			XP_016856091.1
XM_017000603.1	312	Intron			XP_016856092.1
XM_017000604.1	312	Intron			XP_016856093.1

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