Product Details

SNP ID

rs278981

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.4:40425993 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ATGTAGCCTGCGTATCCTCCATACA[T/C]GGCGGCCGCGGCTGCCGCGTTCTTC

Phenotype

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

RBM47 PubMed Links

Gene Details

Gene

RBM47

Gene Name

RNA binding motif protein 47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098634.1	2524	Missense Mutation	ATG,GTG	M565V	NP_001092104.1
NM_019027.3	2524	Missense Mutation	ATG,GTG	M496V	NP_061900.2
XM_005248103.3	2524	Missense Mutation	ATG,GTG	M565V	XP_005248160.1
XM_005248107.3	2524	Missense Mutation	ATG,GTG	M565V	XP_005248164.1
XM_005248108.3	2524	Missense Mutation	ATG,GTG	M565V	XP_005248165.1
XM_005248109.4	2524	Missense Mutation	ATG,GTG	M565V	XP_005248166.1
XM_011513704.2	2524	Missense Mutation	ATG,GTG	M565V	XP_011512006.1
XM_011513707.2	2524	Missense Mutation	ATG,GTG	M565V	XP_011512009.1
XM_011513708.2	2524	Missense Mutation	ATG,GTG	M565V	XP_011512010.1
XM_017008304.1	2524	Missense Mutation	ATG,GTG	M565V	XP_016863793.1
XM_017008305.1	2524	Missense Mutation	ATG,GTG	M565V	XP_016863794.1
XM_017008306.1	2524	Missense Mutation	ATG,GTG	M565V	XP_016863795.1
XM_017008307.1	2524	Missense Mutation	ATG,GTG	M565V	XP_016863796.1
XM_017008308.1	2524	Missense Mutation	ATG,GTG	M565V	XP_016863797.1
XM_017008309.1	2524	Missense Mutation	ATG,GTG	M564V	XP_016863798.1
XM_017008310.1	2524	Missense Mutation	ATG,GTG	M496V	XP_016863799.1

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