Product Details

SNP ID

rs145149944

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:29121074 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACTTGGAATGTTCAATGCAGGAG[C/G]CAGACGGCTGCACGGTGATGATCAC

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

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	829	Missense Mutation	GCC,GGC	A252G	NP_001003682.1
NM_001171868.1	829	Missense Mutation	GCC,GGC	A252G	NP_001165339.1
XM_011541457.2	829	Missense Mutation	GCC,GGC	A263G	XP_011539759.1

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