Product Details

SNP ID

rs145779872

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:101722954 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCAACATCATGCAAAGATGGTTC[G/T]CGGTACATGGCAACTAGTGATGGGA

Phenotype

MIM: 601515 MIM: 604234

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FGF14 PubMed Links

Gene Details

Gene

FGF14

Gene Name

fibroblast growth factor 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321931.1	968	Silent Mutation	CGA,CGC	R123R	NP_001308860.1
NM_001321932.1	968	Silent Mutation	CGA,CGC	R144R	NP_001308861.1
NM_001321933.1	968	Silent Mutation	CGA,CGC	R147R	NP_001308862.1
NM_001321934.1	968	Silent Mutation	CGA,CGC	R123R	NP_001308863.1
NM_001321935.1	968	Silent Mutation	CGA,CGC	R123R	NP_001308864.1
NM_001321936.1	968	Silent Mutation	CGA,CGC	R144R	NP_001308865.1
NM_001321937.1	968	Intron			NP_001308866.1
NM_001321938.1	968	Silent Mutation	CGA,CGC	R147R	NP_001308867.1
NM_001321939.1	968	Silent Mutation	CGA,CGC	R175R	NP_001308868.1
NM_001321940.1	968	Silent Mutation	CGA,CGC	R147R	NP_001308869.1
NM_001321941.1	968	Silent Mutation	CGA,CGC	R145R	NP_001308870.1
NM_001321942.1	968	Silent Mutation	CGA,CGC	R123R	NP_001308871.1
NM_001321943.1	968	Silent Mutation	CGA,CGC	R123R	NP_001308872.1
NM_001321944.1	968	Silent Mutation	CGA,CGC	R144R	NP_001308873.1
NM_001321945.1	968	Silent Mutation	CGA,CGC	R173R	NP_001308874.1
NM_001321946.1	968	Silent Mutation	CGA,CGC	R123R	NP_001308875.1
NM_001321947.1	968	Silent Mutation	CGA,CGC	R160R	NP_001308876.1
NM_001321948.1	968	Silent Mutation	CGA,CGC	R173R	NP_001308877.1
NM_001321949.1	968	Silent Mutation	CGA,CGC	R123R	NP_001308878.1
NM_004115.3	968	Silent Mutation	CGA,CGC	R207R	NP_004106.1
NM_175929.2	968	Silent Mutation	CGA,CGC	R212R	NP_787125.1

Gene

ITGBL1

Gene Name

integrin subunit beta like 1

There are no transcripts associated with this gene.

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