Product Details

SNP ID

rs140719684

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137460466 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGGGGTGTCGATGCCGCAGTGAG[A/G]ACTCGTCCTCCTGCAAGCAGACCGC

Phenotype

MIM: 608137 MIM: 612122

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NSMF PubMed Links

Gene Details

Gene

NSMF

Gene Name

NMDA receptor synaptonuclear signaling and neuronal migration factor

There are no transcripts associated with this gene.

Gene

PNPLA7

Gene Name

patatin like phospholipase domain containing 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098537.2	4328	Missense Mutation	TCC,TTC	S1319F	NP_001092007.2
NM_152286.4	4328	Missense Mutation	TCC,TTC	S1294F	NP_689499.4
XM_006717102.1	4328	Missense Mutation	TCC,TTC	S1320F	XP_006717165.1
XM_006717104.3	4328	Missense Mutation	TCC,TTC	S1286F	XP_006717167.1
XM_011518664.2	4328	Intron			XP_011516966.1
XM_017014709.1	4328	Missense Mutation	TCC,TTC	S1286F	XP_016870198.1

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