Product Details

SNP ID

rs140107747

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:1841101 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCGGCCCCCACTGCGGAGGGTGC[A/G]CATGTCGGCCGATGCCATGCTCAAG

Phenotype

MIM: 607719 MIM: 191043

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SYT8 PubMed Links

Gene Details

Gene

SYT8

Gene Name

synaptotagmin 8

There are no transcripts associated with this gene.

Gene

TNNI2

Gene Name

troponin I2, fast skeletal type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145829.1	369	Missense Mutation	CAC,CGC	H116R	NP_001139301.1
NM_001145841.1	369	Missense Mutation	CAC,CGC	H116R	NP_001139313.1
NM_003282.3	369	Missense Mutation	CAC,CGC	H116R	NP_003273.1

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