Product Details

SNP ID

rs143166654

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56131090 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCACCCAGGTCAGAGAAAAGAGCA[G/T]ATCCTGCTGGACTTGAACATCAGGT

Phenotype

MIM: 616670

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ESYT1 PubMed Links

Gene Details

Gene

ESYT1

Gene Name

extended synaptotagmin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184796.1	736	Missense Mutation	CAG,CAT	Q206H	NP_001171725.1
NM_015292.2	736	Missense Mutation	CAG,CAT	Q206H	NP_056107.1

Gene

ZC3H10

Gene Name

zinc finger CCCH-type containing 10

There are no transcripts associated with this gene.

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