Product Details

SNP ID

rs113273786

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:39412163 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAAAGACAATGGCAGTTTGTCCC[A/G]GGGAGACTGCAGTCAAACTGAGGGG

Phenotype

MIM: 608271

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KIAA0754 PubMed Links

Gene Details

Gene

KIAA0754

Gene Name

KIAA0754

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015038.1	2660	Missense Mutation	CAG,CGG	Q633R	NP_055853.1

Gene

MACF1

Gene Name

microtubule-actin crosslinking factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012090.5	2660	Intron			NP_036222.3
XM_005270694.1	2660	Intron			XP_005270751.1
XM_005270695.1	2660	Intron			XP_005270752.1
XM_005270696.1	2660	Intron			XP_005270753.1
XM_005270697.1	2660	Intron			XP_005270754.1
XM_005270698.1	2660	Intron			XP_005270755.1
XM_006710519.1	2660	Intron			XP_006710582.1
XM_006710520.2	2660	Intron			XP_006710583.1
XM_006710521.1	2660	Intron			XP_006710584.1
XM_006710522.1	2660	Intron			XP_006710585.1
XM_006710524.2	2660	Intron			XP_006710587.1
XM_006710526.3	2660	Intron			XP_006710589.1
XM_006710528.3	2660	Intron			XP_006710591.1
XM_006710529.3	2660	Intron			XP_006710592.1
XM_006710530.3	2660	Intron			XP_006710593.1
XM_006710531.3	2660	Intron			XP_006710594.1
XM_006710532.3	2660	Intron			XP_006710595.1
XM_006710533.2	2660	Intron			XP_006710596.1
XM_006710535.3	2660	Intron			XP_006710598.1
XM_006710536.2	2660	Intron			XP_006710599.1
XM_006710538.2	2660	Intron			XP_006710601.1
XM_011541141.2	2660	Intron			XP_011539443.1
XM_011541142.2	2660	Intron			XP_011539444.1
XM_017000873.1	2660	Intron			XP_016856362.1
XM_017000874.1	2660	Intron			XP_016856363.1
XM_017000875.1	2660	Intron			XP_016856364.1
XM_017000876.1	2660	Intron			XP_016856365.1
XM_017000877.1	2660	Intron			XP_016856366.1
XM_017000878.1	2660	Intron			XP_016856367.1
XM_017000879.1	2660	Intron			XP_016856368.1
XM_017000880.1	2660	Intron			XP_016856369.1
XM_017000881.1	2660	Intron			XP_016856370.1
XM_017000882.1	2660	Intron			XP_016856371.1

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