Product Details

SNP ID

rs147886536

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:107841027 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCCAATTCCCCTAGTGAGAGCC[A/G]CCGGGAAAGGACTTACAGGCCCACC

Phenotype

MIM: 300204

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MID2 PubMed Links

Gene Details

Gene

MID2

Gene Name

midline 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012216.3	935	Missense Mutation	CAC,CGC	H121R	NP_036348.2
NM_052817.2	935	Missense Mutation	CAC,CGC	H121R	NP_438112.2
XM_005262062.4	935	Missense Mutation	CAC,CGC	H101R	XP_005262119.1
XM_017029239.1	935	Missense Mutation	CAC,CGC	H101R	XP_016884728.1

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