Product Details

SNP ID

rs200501115

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:68780220 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTGCCTCCGGGTACGGGCGGGA[G/T]CCCGGCGGAGGGCGGTGGCAGCGGC

Phenotype

MIM: 602745

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FAM122A PubMed Links

Gene Details

Gene

FAM122A

Gene Name

family with sequence similarity 122A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138333.4	215	Missense Mutation	AGC,ATC	S61I	NP_612206.4

Gene

PIP5K1B

Gene Name

phosphatidylinositol-4-phosphate 5-kinase type 1 beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278253.1	215	Intron			NP_001265182.1
NM_003558.3	215	Intron			NP_003549.1
XM_005252261.3	215	Intron			XP_005252318.1
XM_005252262.4	215	Intron			XP_005252319.1
XM_006717300.2	215	Intron			XP_006717363.1
XM_006717301.1	215	Intron			XP_006717364.1
XM_011519082.2	215	Intron			XP_011517384.1
XM_011519083.2	215	Intron			XP_011517385.1
XM_011519084.2	215	Intron			XP_011517386.1
XM_017015188.1	215	Intron			XP_016870677.1
XM_017015189.1	215	Intron			XP_016870678.1
XM_017015190.1	215	Intron			XP_016870679.1
XM_017015191.1	215	Intron			XP_016870680.1

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