Product Details

SNP ID

rs1053019

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:102341936 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCCTTTCGGGGGACTTGAACCGGTT[A/C]CCCTGTGGGATGGAGGTGCACTCTG

Phenotype

MIM: 613362

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CINP PubMed Links

Gene Details

Gene

CINP

Gene Name

cyclin dependent kinase 2 interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320046.1	2406	Intron			NP_001306975.1
NM_032630.2	2406	Intron			NP_116019.1

Gene

ZNF839

Gene Name

zinc finger protein 839

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267827.1	2406	Missense Mutation	TTA,TTC	L731F	NP_001254756.1
NM_001267828.1	2406	Missense Mutation	TTA,TTC	L731F	NP_001254757.1
NM_018335.4	2406	Missense Mutation	TTA,TTC	L847F	NP_060805.3
XM_006720203.3	2406	Missense Mutation	TTA,TTC	L759F	XP_006720266.2
XM_011536945.1	2406	Missense Mutation	TTA,TTC	L881F	XP_011535247.1
XM_011536946.2	2406	Missense Mutation	TTA,TTC	L831F	XP_011535248.1
XM_011536948.2	2406	Missense Mutation	TTA,TTC	L731F	XP_011535250.1
XM_011536949.2	2406	Intron			XP_011535251.1
XM_011536950.2	2406	Intron			XP_011535252.1
XM_017021447.1	2406	Missense Mutation	TTA,TTC	L797F	XP_016876936.1
XM_017021448.1	2406	Intron			XP_016876937.1
XM_017021449.1	2406	Missense Mutation	TTA,TTC	L512F	XP_016876938.1
XM_017021450.1	2406	Intron			XP_016876939.1
XM_017021451.1	2406	Intron			XP_016876940.1

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