Product Details

SNP ID

rs150789725

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:73554956 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCCAACGACAGTGCACTTTCTC[A/G]ACCTTTTCCTAAAAGTTGGGGATCA

Phenotype

MIM: 605787

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANKRA2 PubMed Links

Gene Details

Gene

ANKRA2

Gene Name

ankyrin repeat family A member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_023039.4	1160	Nonsense Mutation	CGA,TGA	R215*	NP_075526.1
XM_005248560.2	1160	Nonsense Mutation	CGA,TGA	R147*	XP_005248617.1
XM_017009678.1	1160	Nonsense Mutation	CGA,TGA	R54*	XP_016865167.1

View Full Product Details