Product Details

SNP ID: rs137903946
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:30379497 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGGCCGGTTCCCGCCATCCCTCACC[A/C]CCTCGCATGATCCCACGACTGCAAA
Phenotype: MIM: 612897 MIM: 613620
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: LOC107983970 PubMed Links

Gene Details

Gene: LOC107983970
Gene Name: uncharacterized LOC107983970

There are no transcripts associated with this gene.

Gene: MYLPF
Gene Name: myosin light chain, phosphorylatable, fast skeletal muscle

There are no transcripts associated with this gene.

Gene: SEPT1
Gene Name: septin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052838.4	885	Missense Mutation	GGG,GTG	G280V	NP_443070.5
XM_017022991.1	885	Missense Mutation	GGG,GTG	G280V	XP_016878480.1

Gene: TBC1D10B
Gene Name: TBC1 domain family member 10B

There are no transcripts associated with this gene.

Gene: ZNF48
Gene Name: zinc finger protein 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001214906.1	885	Intron			NP_001201835.1
NM_001214907.1	885	Intron			NP_001201836.1
NM_001214909.1	885	Intron			NP_001201838.1
NM_001324494.1	885	Intron			NP_001311423.1
NM_152652.2	885	Intron			NP_689865.2

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