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SNP ID

rs202151101

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6610950 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGAAGTAGTGCGGCTTCTTCACA[G/T]TGATGCCATACTCGCTGAGGGCAGG

Phenotype

MIM: 602366 MIM: 615818 MIM: 600475 MIM: 607998

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ILK PubMed Links

Gene Details

Gene

ILK

Gene Name

integrin linked kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014794.2	684	Intron			NP_001014794.1
NM_001014795.2	684	Intron			NP_001014795.1
NM_001278441.1	684	Intron			NP_001265370.1
NM_001278442.1	684	Intron			NP_001265371.1
NM_004517.3	684	Intron			NP_004508.1
XM_005252904.4	684	Intron			XP_005252961.1
XM_005252905.2	684	Intron			XP_005252962.1
XM_011520065.1	684	Intron			XP_011518367.1
XM_017017672.1	684	Intron			XP_016873161.1

Gene

RRP8

Gene Name

ribosomal RNA processing 8, methyltransferase, homolog (yeast)

There are no transcripts associated with this gene.

Gene

TAF10

Gene Name

TATA-box binding protein associated factor 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006284.3	684	Missense Mutation	AAT,ACT	N210T	NP_006275.1

Gene

TPP1

Gene Name

tripeptidyl peptidase 1

There are no transcripts associated with this gene.

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