Product Details

SNP ID

rs142488044

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:27332097 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACAACATGGCCTTTGGAAAGCCT[A/G]CCAAGTAAGTGATGAACACCCATGT

Phenotype

MIM: 608042

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACTG1P20 PubMed Links

Gene Details

Gene

ACTG1P20

Gene Name

actin gamma 1 pseudogene 20

There are no transcripts associated with this gene.

Gene

SYTL1

Gene Name

synaptotagmin like 1

There are no transcripts associated with this gene.

Gene

TMEM222

Gene Name

transmembrane protein 222

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032125.2	360	Missense Mutation	ACC,GCC	T103A	NP_115501.2

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