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SNP ID: rs149683601
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:74550203 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGCAGACCTCAATGACATTGGAGTC[C/T]GAGAAGCCAGGGAGGCGCTGGTCTT
Phenotype: MIM: 602919 MIM: 607163
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: DOK1 PubMed Links

Gene Details

Gene: DOK1
Gene Name: docking protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001197260.1	520	Intron			NP_001184189.1
NM_001318866.1	520	Intron			NP_001305795.1
NM_001318867.1	520	Intron			NP_001305796.1
NM_001318868.1	520	Intron			NP_001305797.1
NM_001318869.1	520	Intron			NP_001305798.1
NM_001381.4	520	Intron			NP_001372.1
XM_017003528.1	520	Intron			XP_016859017.1

Gene: LOXL3
Gene Name: lysyl oxidase like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289164.1	520	Silent Mutation	TCA,TCG	S153S	NP_001276093.1
NM_001289165.1	520	Intron			NP_001276094.1
NM_032603.3	520	Silent Mutation	TCA,TCG	S153S	NP_115992.1
XM_011533134.2	520	Silent Mutation	TCA,TCG	S153S	XP_011531436.1
XM_017005112.1	520	UTR 5			XP_016860601.1

Gene: M1AP
Gene Name: meiosis 1 associated protein

There are no transcripts associated with this gene.

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