Product Details

SNP ID

rs3811040

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:112740989 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TGATGTTATACTAGTTTCAGCAACT[A/G]AAGAGTCAGAAGTAATCCCTGTGTA

Phenotype

MIM: 616174

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CKAP2L PubMed Links

Gene Details

Gene

CKAP2L

Gene Name

cytoskeleton associated protein 2 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304361.1	1920	Missense Mutation	TCA,TTA	S449L	NP_001291290.1
NM_152515.4	1920	Missense Mutation	TCA,TTA	S614L	NP_689728.3
XM_011510666.2	1920	Missense Mutation	TCA,TTA	S449L	XP_011508968.1

Gene

NT5DC4

Gene Name

5'-nucleotidase domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011512262.2	1920	Intron			XP_011510564.1
XM_011512265.2	1920	Intron			XP_011510567.1
XM_017005474.1	1920	Intron			XP_016860963.1
XM_017005475.1	1920	Intron			XP_016860964.1
XM_017005476.1	1920	Intron			XP_016860965.1
XM_017005477.1	1920	Intron			XP_016860966.1
XM_017005478.1	1920	Intron			XP_016860967.1

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