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SNP ID

rs144707454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:96688954 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTCTCCATCTTATAACCATGTTT[C/T]TCTAGTTCAGCTCTAAGATAAAACA

Phenotype

MIM: 601285

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SHFM1 PubMed Links

Gene Details

Gene

SHFM1

Gene Name

split hand/foot malformation (ectrodactyly) type 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006304.1		Intron			NP_006295.1

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