Product Details

SNP ID

rs200799100

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18245162 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTAGGCCAGGGCCTTGCAGAAGGC[A/G]CTCCAGGCGTGGAAGCAGCGGGTAA

Phenotype

MIM: 600362 MIM: 600966

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FLII PubMed Links

Gene Details

Gene

FLII

Gene Name

FLII, actin remodeling protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256264.1	3798	Silent Mutation	AGC,AGT	S1251S	NP_001243193.1
NM_001256265.1	3798	Silent Mutation	AGC,AGT	S1207S	NP_001243194.1
NM_002018.3	3798	Silent Mutation	AGC,AGT	S1262S	NP_002009.1
XM_005256555.3	3798	Silent Mutation	AGC,AGT	S1289S	XP_005256612.1
XM_005256556.3	3798	Silent Mutation	AGC,AGT	S1288S	XP_005256613.1
XM_005256558.2	3798	Silent Mutation	AGC,AGT	S1261S	XP_005256615.1

Gene

LLGL1

Gene Name

LLGL1, scribble cell polarity complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004140.3	3798	Intron			NP_004131.3
XM_011523849.2	3798	Intron			XP_011522151.1
XM_011523850.2	3798	Intron			XP_011522152.1
XM_011523851.2	3798	Intron			XP_011522153.1
XM_011523852.2	3798	Intron			XP_011522154.1
XM_011523853.2	3798	Intron			XP_011522155.1
XM_011523854.2	3798	Intron			XP_011522156.1
XM_011523855.2	3798	Intron			XP_011522157.1
XM_011523856.1	3798	Intron			XP_011522158.1

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