Product Details

SNP ID

rs201994222

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:66755038 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTATTTGTGAGCAAGGTCCACAG[A/C]CTTCCGTCCTTGCTGAAAGGGGAAA

Phenotype

MIM: 611406

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DYNC1LI2 PubMed Links

Gene Details

Gene

DYNC1LI2

Gene Name

dynein cytoplasmic 1 light intermediate chain 2

There are no transcripts associated with this gene.

Gene

LOC106699570

Gene Name

uncharacterized LOC106699570

There are no transcripts associated with this gene.

Gene

TERB1

Gene Name

telomere repeat binding bouquet formation protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136505.1	2234	Missense Mutation	GCT,TCT	A708S	NP_001129977.1
XM_011523004.2	2234	Missense Mutation	GCT,TCT	A708S	XP_011521306.1
XM_011523005.2	2234	Missense Mutation	GCT,TCT	A708S	XP_011521307.1
XM_011523006.2	2234	Missense Mutation	GCT,TCT	A708S	XP_011521308.1
XM_011523007.2	2234	Missense Mutation	GCT,TCT	A708S	XP_011521309.1
XM_011523008.2	2234	Missense Mutation	GCT,TCT	A708S	XP_011521310.1
XM_011523009.2	2234	Missense Mutation	GCT,TCT	A708S	XP_011521311.1
XM_011523010.2	2234	Missense Mutation	GCT,TCT	A697S	XP_011521312.1
XM_011523011.2	2234	Missense Mutation	GCT,TCT	A697S	XP_011521313.1
XM_011523012.2	2234	Missense Mutation	GCT,TCT	A697S	XP_011521314.1
XM_011523014.2	2234	Missense Mutation	GCT,TCT	A658S	XP_011521316.1
XM_011523015.2	2234	Intron			XP_011521317.1
XM_011523016.2	2234	Intron			XP_011521318.1
XM_011523017.1	2234	Intron			XP_011521319.1
XM_011523018.1	2234	Intron			XP_011521320.1
XM_011523020.1	2234	Intron			XP_011521322.1
XM_017023157.1	2234	Intron			XP_016878646.1
XM_017023158.1	2234	Intron			XP_016878647.1
XM_017023159.1	2234	Intron			XP_016878648.1

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