Product Details

SNP ID

rs61757224

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128203516 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATCTCATCCCGCTGGTCAACCGG[A/C]TGCAAGACGCCTTCTCTGCCATCGG

Phenotype

MIM: 611420 MIM: 602377

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CIZ1 PubMed Links

Gene Details

Gene

CIZ1

Gene Name

CDKN1A interacting zinc finger protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001131015.1	162	Intron			NP_001124487.1
NM_001131016.1	162	Intron			NP_001124488.1
NM_001131017.1	162	Intron			NP_001124489.1
NM_001131018.1	162	Intron			NP_001124490.1
NM_001257975.1	162	Intron			NP_001244904.1
NM_001257976.1	162	Intron			NP_001244905.1
NM_012127.2	162	Intron			NP_036259.2
XM_005251888.3	162	Intron			XP_005251945.2
XM_005251891.3	162	Intron			XP_005251948.2
XM_005251892.3	162	Intron			XP_005251949.2
XM_005251893.4	162	Intron			XP_005251950.4
XM_006717039.3	162	Intron			XP_006717102.2
XM_011518481.1	162	Intron			XP_011516783.1
XM_011518482.2	162	Intron			XP_011516784.2
XM_011518483.1	162	Intron			XP_011516785.1
XM_017014594.1	162	Intron			XP_016870083.1
XM_017014595.1	162	Intron			XP_016870084.1
XM_017014596.1	162	Intron			XP_016870085.1

Gene

DNM1

Gene Name

dynamin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005336.2	162	Missense Mutation	ATG,CTG	M16L	NP_001005336.1
NM_001288737.1	162	Missense Mutation	ATG,CTG	M16L	NP_001275666.1
NM_001288738.1	162	Missense Mutation	ATG,CTG	M16L	NP_001275667.1
NM_001288739.1	162	Missense Mutation	ATG,CTG	M16L	NP_001275668.1
NM_004408.3	162	Missense Mutation	ATG,CTG	M16L	NP_004399.2
XM_005251763.2	162	Missense Mutation	ATG,CTG	M16L	XP_005251820.1
XM_005251768.2	162	Missense Mutation	ATG,CTG	M16L	XP_005251825.1
XM_005251769.2	162	Missense Mutation	ATG,CTG	M16L	XP_005251826.1
XM_006716992.2	162	Missense Mutation	ATG,CTG	M16L	XP_006717055.1
XM_006716993.1	162	Missense Mutation	ATG,CTG	M16L	XP_006717056.1
XM_011518335.2	162	Missense Mutation	ATG,CTG	M16L	XP_011516637.1
XM_011518336.2	162	Missense Mutation	ATG,CTG	M16L	XP_011516638.1
XM_017014369.1	162	Missense Mutation	ATG,CTG	M16L	XP_016869858.1
XM_017014370.1	162	Missense Mutation	ATG,CTG	M16L	XP_016869859.1
XM_017014371.1	162	Missense Mutation	ATG,CTG	M16L	XP_016869860.1
XM_017014372.1	162	Missense Mutation	ATG,CTG	M16L	XP_016869861.1
XM_017014373.1	162	Missense Mutation	ATG,CTG	M16L	XP_016869862.1

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