Product Details

SNP ID

rs144925228

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:29120913 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGTCTCCCCTCTCTTCAGACCC[A/G]GGCCCCCAAGTCCCCTCCTCCTCCC

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	990	Intron			NP_001159477.1
NM_001166006.1	990	Intron			NP_001159478.1
NM_001166007.1	990	Intron			NP_001159479.1
NM_004437.3	990	Intron			NP_004428.1
NM_203342.2	990	Intron			NP_976217.1
NM_203343.2	990	Intron			NP_976218.1
XM_005245753.1	990	Intron			XP_005245810.1
XM_005245757.1	990	Intron			XP_005245814.1
XM_005245760.1	990	Intron			XP_005245817.1
XM_005245761.1	990	Intron			XP_005245818.1
XM_005245763.1	990	Intron			XP_005245820.1
XM_005245764.1	990	Intron			XP_005245821.1
XM_005245765.1	990	Intron			XP_005245822.1
XM_005245768.1	990	Intron			XP_005245825.1
XM_005245769.1	990	Intron			XP_005245826.1
XM_005245770.1	990	Intron			XP_005245827.1
XM_005245772.4	990	Intron			XP_005245829.1
XM_005245773.4	990	Intron			XP_005245830.1
XM_005245774.1	990	Intron			XP_005245831.1
XM_006710434.1	990	Intron			XP_006710497.1
XM_006710439.1	990	Intron			XP_006710502.1
XM_011540956.1	990	Intron			XP_011539258.1
XM_011540957.1	990	Intron			XP_011539259.1
XM_011540958.1	990	Intron			XP_011539260.1
XM_011540959.1	990	Intron			XP_011539261.1
XM_011540960.1	990	Intron			XP_011539262.1
XM_011540961.1	990	Intron			XP_011539263.1
XM_011540962.1	990	Intron			XP_011539264.1
XM_011540963.2	990	Intron			XP_011539265.1
XM_011540964.1	990	Intron			XP_011539266.1
XM_011540965.2	990	Intron			XP_011539267.1
XM_017000581.1	990	Intron			XP_016856070.1
XM_017000582.1	990	Intron			XP_016856071.1
XM_017000583.1	990	Intron			XP_016856072.1
XM_017000584.1	990	Intron			XP_016856073.1
XM_017000585.1	990	Intron			XP_016856074.1
XM_017000586.1	990	Intron			XP_016856075.1
XM_017000587.1	990	Intron			XP_016856076.1
XM_017000588.1	990	Intron			XP_016856077.1
XM_017000589.1	990	Intron			XP_016856078.1
XM_017000590.1	990	Intron			XP_016856079.1
XM_017000591.1	990	Intron			XP_016856080.1
XM_017000592.1	990	Intron			XP_016856081.1
XM_017000593.1	990	Intron			XP_016856082.1
XM_017000594.1	990	Intron			XP_016856083.1
XM_017000595.1	990	Intron			XP_016856084.1
XM_017000596.1	990	Intron			XP_016856085.1
XM_017000597.1	990	Intron			XP_016856086.1
XM_017000598.1	990	Intron			XP_016856087.1
XM_017000599.1	990	Intron			XP_016856088.1
XM_017000600.1	990	Intron			XP_016856089.1
XM_017000601.1	990	Intron			XP_016856090.1
XM_017000602.1	990	Intron			XP_016856091.1
XM_017000603.1	990	Intron			XP_016856092.1
XM_017000604.1	990	Intron			XP_016856093.1

Gene

TMEM200B

Gene Name

transmembrane protein 200B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003682.3	990	Missense Mutation	CGG,TGG	R306W	NP_001003682.1
NM_001171868.1	990	Missense Mutation	CGG,TGG	R306W	NP_001165339.1
XM_011541457.2	990	Missense Mutation	CGG,TGG	R317W	XP_011539759.1

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