Product Details

SNP ID

rs199684927

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:44756468 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGTCTGTGCCTTGGCAACAAAGC[A/G]CCACTCAGCCGGCTGGATCGCTGTC

Phenotype

MIM: 611196

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ZMIZ2 PubMed Links

Gene Details

Gene

ZMIZ2

Gene Name

zinc finger MIZ-type containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300959.1	1261	Missense Mutation	ACC,GCC	T32A	NP_001287888.1
NM_031449.3	1261	Missense Mutation	ACC,GCC	T32A	NP_113637.3
NM_174929.2	1261	Missense Mutation	ACC,GCC	T32A	NP_777589.2
XM_005249866.2	1261	Missense Mutation	ACC,GCC	T32A	XP_005249923.1
XM_005249867.4	1261	Missense Mutation	ACC,GCC	T32A	XP_005249924.1
XM_005249868.4	1261	Missense Mutation	ACC,GCC	T32A	XP_005249925.1
XM_005249869.2	1261	Missense Mutation	ACC,GCC	T32A	XP_005249926.1
XM_005249870.2	1261	Missense Mutation	ACC,GCC	T32A	XP_005249927.1
XM_005249871.2	1261	Missense Mutation	ACC,GCC	T32A	XP_005249928.1
XM_005249872.2	1261	Missense Mutation	ACC,GCC	T32A	XP_005249929.1
XM_005249873.2	1261	Missense Mutation	ACC,GCC	T32A	XP_005249930.1
XM_011515566.1	1261	Intron			XP_011513868.1
XM_017012674.1	1261	Missense Mutation	ACC,GCC	T32A	XP_016868163.1

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