Product Details

SNP ID

rs140750865

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:22870164 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCATCATTGAGAATCTGGAACTTG[T/C]GAATTCTCTCCACCATCTTCTTCAA

Phenotype

MIM: 606322 MIM: 608146

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

CYFIP1 PubMed Links

Gene Details

Gene

CYFIP1

Gene Name

cytoplasmic FMR1 interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033028.1	4169	Missense Mutation	CAC,CGC	H778R	NP_001028200.1
NM_001287810.2	4169	Missense Mutation	CAC,CGC	H1209R	NP_001274739.1
NM_001324119.1	4169	Missense Mutation	CAC,CGC	H1243R	NP_001311048.1
NM_001324120.1	4169	Missense Mutation	CAC,CGC	H1209R	NP_001311049.1
NM_001324122.1	4169	Missense Mutation	CAC,CGC	H649R	NP_001311051.1
NM_001324123.1	4169	Missense Mutation	CAC,CGC	H1209R	NP_001311052.1
NM_001324124.1	4169	Missense Mutation	CAC,CGC	H1179R	NP_001311053.1
NM_001324125.1	4169	Missense Mutation	CAC,CGC	H1087R	NP_001311054.1
NM_001324126.1	4169	Missense Mutation	CAC,CGC	H1175R	NP_001311055.1
NM_014608.4	4169	Missense Mutation	CAC,CGC	H1209R	NP_055423.1
XM_011543873.2	4169	Missense Mutation	CAC,CGC	H1342R	XP_011542175.1
XM_011543874.1	4169	Missense Mutation	CAC,CGC	H1342R	XP_011542176.1
XM_011543876.2	4169	Missense Mutation	CAC,CGC	H1241R	XP_011542178.2
XM_017022023.1	4169	Missense Mutation	CAC,CGC	H1376R	XP_016877512.1
XM_017022024.1	4169	Missense Mutation	CAC,CGC	H1342R	XP_016877513.1

Gene

NIPA2

Gene Name

non imprinted in Prader-Willi/Angelman syndrome 2

There are no transcripts associated with this gene.

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