Product Details

SNP ID

rs141396048

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:29121113 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGATGATCACATGGCCAGTCTGC[A/G]TCCGTGGACCCCAGGGTGGGGGCAG

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

There are no transcripts associated with this gene.

Gene

TMEM200B

Gene Name

transmembrane protein 200B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003682.3	790	Missense Mutation			NP_001003682.1
NM_001171868.1	790	Missense Mutation			NP_001165339.1
XM_011541457.2	790	Missense Mutation			XP_011539759.1

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