Product Details

SNP ID

rs28452008

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137461970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTGCTCGGCCCCTGCTGGTCGCG[C/G]AGCATCTTCTCCAGCACGCCGCTGC

Phenotype

MIM: 608137 MIM: 612122

Polymorphism

C/G, Transversion 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	4089	Silent Mutation	CTC,CTG	L1239L	NP_001092007.2
NM_152286.4	4089	Silent Mutation	CTC,CTG	L1214L	NP_689499.4
XM_006717102.1	4089	Silent Mutation	CTC,CTG	L1240L	XP_006717165.1
XM_006717104.3	4089	Silent Mutation	CTC,CTG	L1206L	XP_006717167.1
XM_011518664.2	4089	Intron			XP_011516966.1
XM_017014709.1	4089	Silent Mutation	CTC,CTG	L1206L	XP_016870198.1

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