Product Details

SNP ID

rs113980704

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:16600820 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGTAAGCCTTCCAACTCAGCTT[C/T]GCTTTCAAGAGATTCTTTCTTTCCT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANKMY2 PubMed Links

Gene Details

Gene

ANKMY2

Gene Name

ankyrin repeat and MYND domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020319.2	1638	Missense Mutation	AAA,GAA	K423E	NP_064715.1
XM_011515458.1	1638	Missense Mutation	AAA,GAA	K377E	XP_011513760.1

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