Product Details

SNP ID

rs1989866

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:111901465 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACGTGAAGAACATGCTGTAGACA[G/T]GATGATATTATCATTCATTATACTT

Phenotype

MIM: 606723

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ADAM1A PubMed Links

Gene Details

Gene

ADAM1A

Gene Name

ADAM metallopeptidase domain 1A (pseudogene)

There are no transcripts associated with this gene.

Gene

MAPKAPK5

Gene Name

mitogen-activated protein kinase-activated protein kinase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003668.3	8412	Intron			NP_003659.2
NM_139078.2	8412	Intron			NP_620777.1
XM_017020125.1	8412	Intron			XP_016875614.1
XM_017020126.1	8412	Intron			XP_016875615.1
XM_017020127.1	8412	UTR 3			XP_016875616.1
XM_017020128.1	8412	UTR 3			XP_016875617.1
XM_017020129.1	8412	Intron			XP_016875618.1
XM_017020130.1	8412	Intron			XP_016875619.1
XM_017020131.1	8412	Intron			XP_016875620.1
XM_017020132.1	8412	UTR 3			XP_016875621.1
XM_017020133.1	8412	UTR 3			XP_016875622.1
XM_017020134.1	8412	UTR 3			XP_016875623.1
XM_017020135.1	8412	UTR 3			XP_016875624.1
XM_017020136.1	8412	UTR 3			XP_016875625.1
XM_017020137.1	8412	Intron			XP_016875626.1
XM_017020138.1	8412	UTR 3			XP_016875627.1
XM_017020139.1	8412	Intron			XP_016875628.1

Gene

TMEM116

Gene Name

transmembrane protein 116

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193453.1	8412	Intron			NP_001180382.1
NM_001193531.1	8412	Intron			NP_001180460.1
NM_001294314.1	8412	Intron			NP_001281243.1
NM_138341.2	8412	Intron			NP_612350.1
XM_006719678.3	8412	Intron			XP_006719741.1
XM_011538946.1	8412	Intron			XP_011537248.1
XM_011538947.1	8412	Intron			XP_011537249.1
XM_011538948.2	8412	Intron			XP_011537250.1
XM_011538949.2	8412	Intron			XP_011537251.1
XM_011538950.1	8412	Intron			XP_011537252.1
XM_011538951.2	8412	Intron			XP_011537253.1
XM_011538953.1	8412	Intron			XP_011537255.1
XM_011538955.1	8412	Intron			XP_011537257.1
XM_011538957.1	8412	Intron			XP_011537259.1
XM_011538958.1	8412	Intron			XP_011537260.1
XM_017020187.1	8412	Intron			XP_016875676.1
XM_017020188.1	8412	Intron			XP_016875677.1
XM_017020189.1	8412	Intron			XP_016875678.1
XM_017020190.1	8412	Intron			XP_016875679.1
XM_017020191.1	8412	Intron			XP_016875680.1
XM_017020192.1	8412	Intron			XP_016875681.1
XM_017020193.1	8412	Intron			XP_016875682.1
XM_017020194.1	8412	Intron			XP_016875683.1

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