Product Details

SNP ID

rs147047657

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8512421 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGATTGGGTTTGTAGTGCAGTTTGC[C/T]GTGAGCCACCAGCTCCTGCATGCTG

Phenotype

MIM: 601480 MIM: 606466

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYO1F PubMed Links

Gene Details

Gene

MYO1F

Gene Name

myosin IF

There are no transcripts associated with this gene.

Gene

PRAM1

Gene Name

PML-RARA regulated adaptor molecule 1

There are no transcripts associated with this gene.

Gene

ZNF414

Gene Name

zinc finger protein 414

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146175.1	614	Missense Mutation	AGC,GGC	S166G	NP_001139647.1
NM_032370.2	614	Missense Mutation	AGC,GGC	S166G	NP_115746.2

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