Product Details

SNP ID

rs7498

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18245171 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGCCTTGCAGAAGGCGCTCCAGGC[A/G]TGGAAGCAGCGGGTAAAGGCGTGCT

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	3789	Silent Mutation	CAC,CAT	H1248H	NP_001243193.1
NM_001256265.1	3789	Silent Mutation	CAC,CAT	H1204H	NP_001243194.1
NM_002018.3	3789	Silent Mutation	CAC,CAT	H1259H	NP_002009.1
XM_005256555.3	3789	Silent Mutation	CAC,CAT	H1286H	XP_005256612.1
XM_005256556.3	3789	Silent Mutation	CAC,CAT	H1285H	XP_005256613.1
XM_005256558.2	3789	Silent Mutation	CAC,CAT	H1258H	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	3789	Intron			NP_004131.3
XM_011523849.2	3789	Intron			XP_011522151.1
XM_011523850.2	3789	Intron			XP_011522152.1
XM_011523851.2	3789	Intron			XP_011522153.1
XM_011523852.2	3789	Intron			XP_011522154.1
XM_011523853.2	3789	Intron			XP_011522155.1
XM_011523854.2	3789	Intron			XP_011522156.1
XM_011523855.2	3789	Intron			XP_011522157.1
XM_011523856.1	3789	Intron			XP_011522158.1

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