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SNP ID

rs140431274

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56131514 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCGGGTGATACTGGAGCCACTCA[C/T]TGGGGACCTTCCCTTCGTGGGGGCT

Phenotype

MIM: 616670

Polymorphism

C/T, Transition 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	870	Missense Mutation	ACT,ATT	T251I	NP_001171725.1
NM_015292.2	870	Missense Mutation	ACT,ATT	T251I	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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