Product Details

SNP ID

rs201231713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30088569 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTTACAGTTTCTGCCGTTCTCC[C/T]GGAAGCCTTTGGCAAAGGGATTGGC

Phenotype

MIM: 602035 MIM: 602427 MIM: 609724

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC101928595 PubMed Links

Gene Details

Gene

LOC101928595

Gene Name

uncharacterized LOC101928595

There are no transcripts associated with this gene.

Gene

PPP4C

Gene Name

protein phosphatase 4 catalytic subunit

There are no transcripts associated with this gene.

Gene

TBX6

Gene Name

T-box 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004608.3	900	Missense Mutation	CAG,CGG	Q272R	NP_004599.2
XM_005255523.2	900	Missense Mutation	CAG,CGG	Q272R	XP_005255580.1
XM_011545926.2	900	Missense Mutation	CAG,CGG	Q272R	XP_011544228.1
XM_017023614.1	900	Missense Mutation	CAG,CGG	Q272R	XP_016879103.1

Gene

YPEL3

Gene Name

yippee like 3

There are no transcripts associated with this gene.

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