Product Details

SNP ID: rs138142007
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:52248184 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTTGGTGCGGAGAGATGAGATACGG[C/T]CACTGAGCTTCGAGTTCACCCCAGA
Phenotype: MIM: 608979 MIM: 607433 MIM: 611059
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: LOC101929054 PubMed Links

Gene Details

Gene: LOC101929054
Gene Name: uncharacterized LOC101929054

There are no transcripts associated with this gene.

Gene: PPM1M
Gene Name: protein phosphatase, Mg2+/Mn2+ dependent 1M

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122870.2	663	Missense Mutation	CCA,TCA	P36S	NP_001116342.1
NM_144641.3	663	Missense Mutation	CCA,TCA	P248S	NP_653242.3
XM_005264879.2	663	Missense Mutation	CCA,TCA	P248S	XP_005264936.1
XM_005264880.3	663	Missense Mutation	CCA,TCA	P163S	XP_005264937.1
XM_005264881.1	663	Missense Mutation	CCA,TCA	P87S	XP_005264938.1

Gene: TWF2
Gene Name: twinfilin actin binding protein 2

There are no transcripts associated with this gene.

Gene: WDR82
Gene Name: WD repeat domain 82

There are no transcripts associated with this gene.

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