Product Details

SNP ID

rs144477812

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:10038344 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGACTTGAGAACTTACAGATCTAC[A/C]AAGTTCTTCAATGTGTGCGGAACAA

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ANKEF1 PubMed Links

Gene Details

Gene

ANKEF1

Gene Name

ankyrin repeat and EF-hand domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303472.1	486	UTR 5			NP_001290401.1
NM_022096.5	486	Missense Mutation	AAA,CAA	K15Q	NP_071379.3
NM_198798.2	486	Missense Mutation	AAA,CAA	K15Q	NP_942093.1
XM_005260792.2	486	Intron			XP_005260849.1

Gene

SNAP25-AS1

Gene Name

SNAP25 antisense RNA 1

There are no transcripts associated with this gene.

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