Product Details

SNP ID

rs199958456

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:109174609 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTTCTCTCTCTCCAGTTCCTGC[C/T]GGAGTGTCTCTGCACTAAAAAAAAG

Phenotype

MIM: 610340 MIM: 604574

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EPB41L4B PubMed Links

Gene Details

Gene

EPB41L4B

Gene Name

erythrocyte membrane protein band 4.1 like 4B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018424.3	2786	Intron			NP_060894.2
NM_019114.4	2786	Missense Mutation	CAG,CGG	Q883R	NP_061987.3
XM_011518790.1	2786	Missense Mutation	CAG,CGG	Q924R	XP_011517092.1
XM_011518791.2	2786	Missense Mutation	CAG,CGG	Q921R	XP_011517093.1
XM_011518792.2	2786	Missense Mutation	CAG,CGG	Q847R	XP_011517094.1
XM_011518794.2	2786	Missense Mutation	CAG,CGG	Q824R	XP_011517096.1
XM_017014813.1	2786	Missense Mutation	CAG,CGG	Q886R	XP_016870302.1
XM_017014814.1	2786	Missense Mutation	CAG,CGG	Q844R	XP_016870303.1
XM_017014815.1	2786	Missense Mutation	CAG,CGG	Q821R	XP_016870304.1

Gene

FRRS1L

Gene Name

ferric chelate reductase 1 like

There are no transcripts associated with this gene.

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