Product Details

SNP ID

rs12117132

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:29120285 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAGGAAGGAGAGAAGGGGCTTCTCA[C/G]ACTTATTTGCAGAAGGGCCCAGAAC

Phenotype

MIM: 130500

Polymorphism

C/G, Transversion 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	1618	Intron			NP_001159477.1
NM_001166006.1	1618	Intron			NP_001159478.1
NM_001166007.1	1618	Intron			NP_001159479.1
NM_004437.3	1618	Intron			NP_004428.1
NM_203342.2	1618	Intron			NP_976217.1
NM_203343.2	1618	Intron			NP_976218.1
XM_005245753.1	1618	Intron			XP_005245810.1
XM_005245757.1	1618	Intron			XP_005245814.1
XM_005245760.1	1618	Intron			XP_005245817.1
XM_005245761.1	1618	Intron			XP_005245818.1
XM_005245763.1	1618	Intron			XP_005245820.1
XM_005245764.1	1618	Intron			XP_005245821.1
XM_005245765.1	1618	Intron			XP_005245822.1
XM_005245768.1	1618	Intron			XP_005245825.1
XM_005245769.1	1618	Intron			XP_005245826.1
XM_005245770.1	1618	Intron			XP_005245827.1
XM_005245772.4	1618	Intron			XP_005245829.1
XM_005245773.4	1618	Intron			XP_005245830.1
XM_005245774.1	1618	Intron			XP_005245831.1
XM_006710434.1	1618	Intron			XP_006710497.1
XM_006710439.1	1618	Intron			XP_006710502.1
XM_011540956.1	1618	Intron			XP_011539258.1
XM_011540957.1	1618	Intron			XP_011539259.1
XM_011540958.1	1618	Intron			XP_011539260.1
XM_011540959.1	1618	Intron			XP_011539261.1
XM_011540960.1	1618	Intron			XP_011539262.1
XM_011540961.1	1618	Intron			XP_011539263.1
XM_011540962.1	1618	Intron			XP_011539264.1
XM_011540963.2	1618	Intron			XP_011539265.1
XM_011540964.1	1618	Intron			XP_011539266.1
XM_011540965.2	1618	Intron			XP_011539267.1
XM_017000581.1	1618	Intron			XP_016856070.1
XM_017000582.1	1618	Intron			XP_016856071.1
XM_017000583.1	1618	Intron			XP_016856072.1
XM_017000584.1	1618	Intron			XP_016856073.1
XM_017000585.1	1618	Intron			XP_016856074.1
XM_017000586.1	1618	Intron			XP_016856075.1
XM_017000587.1	1618	Intron			XP_016856076.1
XM_017000588.1	1618	Intron			XP_016856077.1
XM_017000589.1	1618	Intron			XP_016856078.1
XM_017000590.1	1618	Intron			XP_016856079.1
XM_017000591.1	1618	Intron			XP_016856080.1
XM_017000592.1	1618	Intron			XP_016856081.1
XM_017000593.1	1618	Intron			XP_016856082.1
XM_017000594.1	1618	Intron			XP_016856083.1
XM_017000595.1	1618	Intron			XP_016856084.1
XM_017000596.1	1618	Intron			XP_016856085.1
XM_017000597.1	1618	Intron			XP_016856086.1
XM_017000598.1	1618	Intron			XP_016856087.1
XM_017000599.1	1618	Intron			XP_016856088.1
XM_017000600.1	1618	Intron			XP_016856089.1
XM_017000601.1	1618	Intron			XP_016856090.1
XM_017000602.1	1618	Intron			XP_016856091.1
XM_017000603.1	1618	Intron			XP_016856092.1
XM_017000604.1	1618	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	1618	UTR 3			NP_001003682.1
NM_001171868.1	1618	UTR 3			NP_001165339.1
XM_011541457.2	1618	UTR 3			XP_011539759.1

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