Product Details

SNP ID

rs146895380

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:44810568 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACTCTACAGGTGCTGGAAGTGCT[G/T]ACAGCGGCTGTGGAGTATGGGCTGG

Phenotype

MIM: 602913 MIM: 603673 MIM: 611713

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BTBD19 PubMed Links

Gene Details

Gene

BTBD19

Gene Name

BTB domain containing 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136537.1	654	Silent Mutation	CTG,CTT	L105L	NP_001130009.1
XM_006710386.3	654	Silent Mutation	CTG,CTT	L105L	XP_006710449.1
XM_011540803.2	654	Missense Mutation	GAC,TAC	D148Y	XP_011539105.1
XM_011540805.2	654	Missense Mutation	GAC,TAC	D148Y	XP_011539107.1
XM_017000447.1	654	Missense Mutation	GAC,TAC	D148Y	XP_016855936.1
XM_017000448.1	654	Silent Mutation	CTG,CTT	L105L	XP_016855937.1
XM_017000449.1	654	Missense Mutation	GAC,TAC	D148Y	XP_016855938.1

Gene

PLK3

Gene Name

polo like kinase 3

There are no transcripts associated with this gene.

Gene

PTCH2

Gene Name

patched 2

There are no transcripts associated with this gene.

Gene

TCTEX1D4

Gene Name

Tctex1 domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013632.3	654	Intron			NP_001013654.1

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