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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