Product Details

SNP ID

rs4771983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:97146479 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTATGAATGAAAAATGAGCACAGAA[A/G]GAGTGCTGTTGGCCAGGGATCTCAC

Phenotype

MIM: 607327

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MBNL2 PubMed Links

Gene Details

Gene

MBNL2

Gene Name

muscleblind like splicing regulator 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306070.1		Intron			NP_001292999.1
NM_144778.3		Intron			NP_659002.1
NM_207304.2		Intron			NP_997187.1
XM_005254018.2		Intron			XP_005254075.1
XM_005254019.2		Intron			XP_005254076.1
XM_005254021.2		Intron			XP_005254078.1
XM_005254022.2		Intron			XP_005254079.1
XM_006719912.2		Intron			XP_006719975.1
XM_011521045.2		Intron			XP_011519347.1
XM_017020308.1		Intron			XP_016875797.1
XM_017020309.1		Intron			XP_016875798.1
XM_017020310.1		Intron			XP_016875799.1
XM_017020311.1		Intron			XP_016875800.1

View Full Product Details