Product Details

SNP ID

rs200545577

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:122274103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTTCTGACATCATCTCCACCTT[C/T]ATCTTGAGGTCTTGATTCTTCCTTT

Phenotype

MIM: 179838 MIM: 610034

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CLIP1 PubMed Links

Gene Details

Gene

CLIP1

Gene Name

CAP-Gly domain containing linker protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001247997.1	4021	Missense Mutation	ATA,ATG	I1342M	NP_001234926.1
NM_002956.2	4021	Missense Mutation	ATA,ATG	I1331M	NP_002947.1
NM_198240.1	4021	Missense Mutation	ATA,ATG	I1296M	NP_937883.1
XM_005253593.2	4021	Missense Mutation	ATA,ATG	I1344M	XP_005253650.1
XM_006719552.3	4021	Missense Mutation	ATA,ATG	I1333M	XP_006719615.1
XM_017019786.1	4021	Missense Mutation	ATA,ATG	I1331M	XP_016875275.1
XM_017019787.1	4021	Missense Mutation	ATA,ATG	I1305M	XP_016875276.1
XM_017019788.1	4021	Missense Mutation	ATA,ATG	I1298M	XP_016875277.1
XM_017019789.1	4021	Missense Mutation	ATA,ATG	I1298M	XP_016875278.1
XM_017019790.1	4021	Missense Mutation	ATA,ATG	I1296M	XP_016875279.1
XM_017019791.1	4021	Missense Mutation	ATA,ATG	I1294M	XP_016875280.1
XM_017019792.1	4021	Missense Mutation	ATA,ATG	I1259M	XP_016875281.1

Gene

VPS33A

Gene Name

VPS33A, CORVET/HOPS core subunit

There are no transcripts associated with this gene.

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