Product Details

SNP ID

rs76433610

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:22872833 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTTTCATCCACATACCACATTTT[T/A]AATAATCTCATCTTTGCCATCATGT

Phenotype

MIM: 606322 MIM: 608146

Polymorphism

T/A, Transversion 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	4132	Nonsense Mutation	AAA,TAA	K766*	NP_001028200.1
NM_001287810.2	4132	Nonsense Mutation	AAA,TAA	K1197*	NP_001274739.1
NM_001324119.1	4132	Nonsense Mutation	AAA,TAA	K1231*	NP_001311048.1
NM_001324120.1	4132	Nonsense Mutation	AAA,TAA	K1197*	NP_001311049.1
NM_001324122.1	4132	Nonsense Mutation	AAA,TAA	K637*	NP_001311051.1
NM_001324123.1	4132	Nonsense Mutation	AAA,TAA	K1197*	NP_001311052.1
NM_001324124.1	4132	Nonsense Mutation	AAA,TAA	K1167*	NP_001311053.1
NM_001324125.1	4132	Nonsense Mutation	AAA,TAA	K1075*	NP_001311054.1
NM_001324126.1	4132	Nonsense Mutation	AAA,TAA	K1163*	NP_001311055.1
NM_014608.4	4132	Nonsense Mutation	AAA,TAA	K1197*	NP_055423.1
XM_011543873.2	4132	Nonsense Mutation	AAA,TAA	K1330*	XP_011542175.1
XM_011543874.1	4132	Nonsense Mutation	AAA,TAA	K1330*	XP_011542176.1
XM_011543876.2	4132	Nonsense Mutation	AAA,TAA	K1229*	XP_011542178.2
XM_017022023.1	4132	Nonsense Mutation	AAA,TAA	K1364*	XP_016877512.1
XM_017022024.1	4132	Nonsense Mutation	AAA,TAA	K1330*	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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