Product Details

SNP ID

rs55906164

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:38413739 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAATCCTCCCCTGAGGAGCACGT[A/G]GAGCTCCGGGTGTCGGGAAAGCTGG

Phenotype

MIM: 136350

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FGFR1 PubMed Links

Gene Details

Gene

FGFR1

Gene Name

fibroblast growth factor receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001174063.1	2193	Silent Mutation	TCC,TCT	S784S	NP_001167534.1
NM_001174064.1	2193	Silent Mutation	TCC,TCT	S776S	NP_001167535.1
NM_001174065.1	2193	Silent Mutation	TCC,TCT	S784S	NP_001167536.1
NM_001174066.1	2193	Silent Mutation	TCC,TCT	S697S	NP_001167537.1
NM_001174067.1	2193	Silent Mutation	TCC,TCT	S817S	NP_001167538.1
NM_015850.3	2193	Silent Mutation	TCC,TCT	S784S	NP_056934.2
NM_023105.2	2193	Silent Mutation	TCC,TCT	S697S	NP_075593.1
NM_023106.2	2193	Silent Mutation	TCC,TCT	S695S	NP_075594.1
NM_023110.2	2193	Silent Mutation	TCC,TCT	S786S	NP_075598.2
XM_006716303.2	2193	Intron			XP_006716366.1
XM_006716304.1	2193	Intron			XP_006716367.1
XM_006716306.2	2193	Intron			XP_006716369.1
XM_006716307.1	2193	Intron			XP_006716370.1
XM_006716309.3	2193	Intron			XP_006716372.1
XM_006716310.2	2193	Intron			XP_006716373.1
XM_006716311.1	2193	Intron			XP_006716374.1
XM_006716312.1	2193	Intron			XP_006716375.1
XM_006716313.2	2193	Intron			XP_006716376.1
XM_006716314.1	2193	Intron			XP_006716377.1
XM_011544443.2	2193	Intron			XP_011542745.1
XM_011544444.1	2193	Intron			XP_011542746.1
XM_011544445.2	2193	Intron			XP_011542747.1
XM_011544446.2	2193	Silent Mutation	TCC,TCT	S819S	XP_011542748.1
XM_011544447.2	2193	Silent Mutation	TCC,TCT	S817S	XP_011542749.1
XM_011544448.1	2193	Intron			XP_011542750.1
XM_011544449.1	2193	Intron			XP_011542751.1
XM_011544450.2	2193	Silent Mutation	TCC,TCT	S728S	XP_011542752.1
XM_011544451.1	2193	Intron			XP_011542753.1
XM_011544452.2	2193	Intron			XP_011542754.1
XM_017013219.1	2193	Intron			XP_016868708.1
XM_017013220.1	2193	Silent Mutation	TCC,TCT	S815S	XP_016868709.1
XM_017013221.1	2193	Intron			XP_016868710.1
XM_017013222.1	2193	Intron			XP_016868711.1
XM_017013223.1	2193	Intron			XP_016868712.1
XM_017013224.1	2193	Silent Mutation	TCC,TCT	S782S	XP_016868713.1
XM_017013225.1	2193	Silent Mutation	TCC,TCT	S782S	XP_016868714.1
XM_017013226.1	2193	Silent Mutation	TCC,TCT	S728S	XP_016868715.1
XM_017013227.1	2193	Silent Mutation	TCC,TCT	S726S	XP_016868716.1
XM_017013228.1	2193	Silent Mutation	TCC,TCT	S693S	XP_016868717.1
XM_017013229.1	2193	Intron			XP_016868718.1
XM_017013230.1	2193	Silent Mutation	TCC,TCT	S462S	XP_016868719.1
XM_017013231.1	2193	Intron			XP_016868720.1

Gene

LETM2

Gene Name

leucine zipper and EF-hand containing transmembrane protein 2

There are no transcripts associated with this gene.

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