Product Details

SNP ID

rs143818219

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:41647262 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTCTCGCCCCAGGGCAGCTGAG[C/T]GGCTGATGAGGAGGGCGCAGCGGGT

Phenotype

MIM: 612641 MIM: 610772

Polymorphism

C/T, 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	98	Missense Mutation	CCT,TCT	P32S	NP_689781.1
XM_017013143.1	98	Intron			XP_016868632.1

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