Product Details

SNP ID

rs575710

Assay Type

Functionally tested

NCBI dbSNP Submissions

33

Location

Chr.1:29120143 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGACCTAAACTCAAGTCATTTTCT[A/G]AAGTAAGTTACCCACATTGACCAAA

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	1760	Intron			NP_001159477.1
NM_001166006.1	1760	Intron			NP_001159478.1
NM_001166007.1	1760	Intron			NP_001159479.1
NM_004437.3	1760	Intron			NP_004428.1
NM_203342.2	1760	Intron			NP_976217.1
NM_203343.2	1760	Intron			NP_976218.1
XM_005245753.1	1760	Intron			XP_005245810.1
XM_005245757.1	1760	Intron			XP_005245814.1
XM_005245760.1	1760	Intron			XP_005245817.1
XM_005245761.1	1760	Intron			XP_005245818.1
XM_005245763.1	1760	Intron			XP_005245820.1
XM_005245764.1	1760	Intron			XP_005245821.1
XM_005245765.1	1760	Intron			XP_005245822.1
XM_005245768.1	1760	Intron			XP_005245825.1
XM_005245769.1	1760	Intron			XP_005245826.1
XM_005245770.1	1760	Intron			XP_005245827.1
XM_005245772.4	1760	Intron			XP_005245829.1
XM_005245773.4	1760	Intron			XP_005245830.1
XM_005245774.1	1760	Intron			XP_005245831.1
XM_006710434.1	1760	Intron			XP_006710497.1
XM_006710439.1	1760	Intron			XP_006710502.1
XM_011540956.1	1760	Intron			XP_011539258.1
XM_011540957.1	1760	Intron			XP_011539259.1
XM_011540958.1	1760	Intron			XP_011539260.1
XM_011540959.1	1760	Intron			XP_011539261.1
XM_011540960.1	1760	Intron			XP_011539262.1
XM_011540961.1	1760	Intron			XP_011539263.1
XM_011540962.1	1760	Intron			XP_011539264.1
XM_011540963.2	1760	Intron			XP_011539265.1
XM_011540964.1	1760	Intron			XP_011539266.1
XM_011540965.2	1760	Intron			XP_011539267.1
XM_017000581.1	1760	Intron			XP_016856070.1
XM_017000582.1	1760	Intron			XP_016856071.1
XM_017000583.1	1760	Intron			XP_016856072.1
XM_017000584.1	1760	Intron			XP_016856073.1
XM_017000585.1	1760	Intron			XP_016856074.1
XM_017000586.1	1760	Intron			XP_016856075.1
XM_017000587.1	1760	Intron			XP_016856076.1
XM_017000588.1	1760	Intron			XP_016856077.1
XM_017000589.1	1760	Intron			XP_016856078.1
XM_017000590.1	1760	Intron			XP_016856079.1
XM_017000591.1	1760	Intron			XP_016856080.1
XM_017000592.1	1760	Intron			XP_016856081.1
XM_017000593.1	1760	Intron			XP_016856082.1
XM_017000594.1	1760	Intron			XP_016856083.1
XM_017000595.1	1760	Intron			XP_016856084.1
XM_017000596.1	1760	Intron			XP_016856085.1
XM_017000597.1	1760	Intron			XP_016856086.1
XM_017000598.1	1760	Intron			XP_016856087.1
XM_017000599.1	1760	Intron			XP_016856088.1
XM_017000600.1	1760	Intron			XP_016856089.1
XM_017000601.1	1760	Intron			XP_016856090.1
XM_017000602.1	1760	Intron			XP_016856091.1
XM_017000603.1	1760	Intron			XP_016856092.1
XM_017000604.1	1760	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	1760	UTR 3			NP_001003682.1
NM_001171868.1	1760	UTR 3			NP_001165339.1
XM_011541457.2	1760	UTR 3			XP_011539759.1

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