Product Details

SNP ID

rs202016063

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:110042388 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTCTGGCTGTCACCGACGCCGAA[A/T]GGGCTTGTAGACACAAAATGCCATA

Phenotype

MIM: 615123

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ANKRD13A PubMed Links

Gene Details

Gene

ANKRD13A

Gene Name

ankyrin repeat domain 13A

There are no transcripts associated with this gene.

Gene

C12orf76

Gene Name

chromosome 12 open reading frame 76

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207435.2	404	Missense Mutation	CAT,CTT	H124L	NP_997318.1
XM_017019297.1	404	Missense Mutation	CAT,CTT	H135L	XP_016874786.1

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