Product Details

SNP ID

rs12144325

Assay Type

Functionally tested

NCBI dbSNP Submissions

30

Location

Chr.1:54782401 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAAGGTCAGCCTTGGCACAGGCC[A/G]GGTGGTTCCTGTCAGGCATGCCCCC

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TTC22 PubMed Links

Gene Details

Gene

TTC22

Gene Name

tetratricopeptide repeat domain 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114108.1	1202	Missense Mutation	CCG,CTG	P366L	NP_001107580.1
NM_017904.3	1202	Intron			NP_060374.2
XM_011541671.2	1202	Intron			XP_011539973.1
XM_017001582.1	1202	Missense Mutation	CCG,CTG	P175L	XP_016857071.1

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