Product Details

SNP ID

rs78009751

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:4420912 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGATATTTTCAGTTGCCCCCAC[A/G]ACTAACTGGTGAATGCTGTCAATCT

Phenotype

MIM: 607645 MIM: 606046

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NSG1 PubMed Links

Gene Details

Gene

NSG1

Gene Name

neuron specific gene family member 1

There are no transcripts associated with this gene.

Gene

STX18

Gene Name

syntaxin 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016930.2	1020	Silent Mutation	GTC,GTT	V288V	NP_058626.1
XM_011513480.1	1020	Silent Mutation	GTC,GTT	V319V	XP_011511782.1
XM_011513483.1	1020	Silent Mutation	GTC,GTT	V286V	XP_011511785.1
XM_011513485.2	1020	Silent Mutation	GTC,GTT	V207V	XP_011511787.1
XM_017008296.1	1020	Intron			XP_016863785.1
XM_017008297.1	1020	Silent Mutation	GTC,GTT	V238V	XP_016863786.1
XM_017008298.1	1020	Intron			XP_016863787.1

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