Product Details

SNP ID

rs11978

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:23779464 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTGAAAGTGATGCAGATGAAGA[G/T]CTTCTGTTTAATATTCCGTAAGTAT

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PITHD1 PubMed Links

Gene Details

Gene

PITHD1

Gene Name

PITH domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020362.4	355	Missense Mutation	GAG,GAT	E75D	NP_065095.2
XM_011541804.1	355	Intron			XP_011540106.1

Gene

TCEB3-AS1

Gene Name

TCEB3 antisense RNA 1

There are no transcripts associated with this gene.

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