Product Details

SNP ID

rs2518121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:105572149 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AATAATTATGATTTATTAGGTTATC[G/T]TTGCTTAATATACATTACTGATCAG

Phenotype

MIM: 607440

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FKTN PubMed Links

Gene Details

Gene

FKTN

Gene Name

fukutin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079802.1		Intron			NP_001073270.1
NM_001198963.1		Intron			NP_001185892.1
NM_006731.2		Intron			NP_006722.2
XM_006717014.2		Intron			XP_006717077.1
XM_011518368.2		Intron			XP_011516670.1
XM_011518369.2		Intron			XP_011516671.1
XM_011518370.2		Intron			XP_011516672.1
XM_011518371.2		Intron			XP_011516673.1
XM_011518373.2		Intron			XP_011516675.1
XM_011518374.2		Intron			XP_011516676.1
XM_011518375.2		Intron			XP_011516677.1
XM_011518376.2		Intron			XP_011516678.1
XM_011518378.2		Intron			XP_011516680.1
XM_011518379.2		Intron			XP_011516681.1
XM_011518381.2		Intron			XP_011516683.1
XM_011518387.2		Intron			XP_011516689.1
XM_011518389.2		Intron			XP_011516691.1
XM_011518390.2		Intron			XP_011516692.1
XM_011518391.2		Intron			XP_011516693.1
XM_017014462.1		Intron			XP_016869951.1
XM_017014463.1		Intron			XP_016869952.1
XM_017014464.1		Intron			XP_016869953.1
XM_017014465.1		Intron			XP_016869954.1
XM_017014466.1		Intron			XP_016869955.1
XM_017014467.1		Intron			XP_016869956.1
XM_017014468.1		Intron			XP_016869957.1
XM_017014469.1		Intron			XP_016869958.1
XM_017014470.1		Intron			XP_016869959.1
XM_017014471.1		Intron			XP_016869960.1
XM_017014472.1		Intron			XP_016869961.1
XM_017014473.1		Intron			XP_016869962.1
XM_017014474.1		Intron			XP_016869963.1
XM_017014475.1		Intron			XP_016869964.1
XM_017014476.1		Intron			XP_016869965.1
XM_017014477.1		Intron			XP_016869966.1
XM_017014478.1		Intron			XP_016869967.1
XM_017014479.1		Intron			XP_016869968.1

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