Product Details

SNP ID

rs138815732

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:41646493 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCTGAGCACCGAGAAGGCGGCGC[A/G]GTGCTTGCGCAGCAGCAGGCGGATC

Phenotype

MIM: 612641 MIM: 610772

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANK1 PubMed Links

Gene Details

Gene

ANK1

Gene Name

ankyrin 1

There are no transcripts associated with this gene.

Gene

NKX6-3

Gene Name

NK6 homeobox 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152568.3	368	Missense Mutation	CGC,TGC	R122C	NP_689781.1
XM_017013143.1	368	Missense Mutation	CGC,TGC	R252C	XP_016868632.1

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