Product Details

SNP ID

rs199779324

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:37126001 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCAACCTTAATATACAAGACGCC[C/T]AGAAGAGGTACCAGGCCCTGCCTGA

Phenotype

MIM: 610856

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANKRD30A PubMed Links

Gene Details

Gene

ANKRD30A

Gene Name

ankyrin repeat domain 30A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052997.2	248	Nonsense Mutation	CAG,TAG	Q16*	NP_443723.2
XM_011519757.2	248	Nonsense Mutation	CAG,TAG	Q72*	XP_011518059.1
XM_011519758.2	248	Intron			XP_011518060.1
XM_017016883.1	248	Intron			XP_016872372.1

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