Product Details

SNP ID

rs199845652

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:54717627 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTTGAATGCTGTCCTTTATACCA[A/G]CCGGGCAGCAGCACAGTACTATCTG

Phenotype

MIM: 606753

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MROH7 PubMed Links

Gene Details

Gene

MROH7

Gene Name

maestro heat like repeat family member 7

There are no transcripts associated with this gene.

Gene

MROH7-TTC4

Gene Name

MROH7-TTC4 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

TTC4

Gene Name

tetratricopeptide repeat domain 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291333.1	452	Missense Mutation	AAC,AGC	N122S	NP_001278262.1
NM_004623.4	452	Missense Mutation	AAC,AGC	N122S	NP_004614.3

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