Product Details

SNP ID

rs148348333

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:87195090 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCATTGGATCATCCTTGGGCAGT[C/T]CTGTTTCAGAAGATTCAAAGGATGT

Phenotype

MIM: 608491 MIM: 616993

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DMTF1 PubMed Links

Gene Details

Gene

DMTF1

Gene Name

cyclin D binding myb like transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142326.1	3747	Missense Mutation	CCT,TCT	P657S	NP_001135798.1
NM_001142327.1	3747	Missense Mutation	CCT,TCT	P745S	NP_001135799.1
NM_021145.3	3747	Missense Mutation	CCT,TCT	P745S	NP_066968.3
XM_011516735.2	3747	Missense Mutation	CCT,TCT	P745S	XP_011515037.1
XM_011516737.1	3747	Missense Mutation	CCT,TCT	P745S	XP_011515039.1
XM_011516739.2	3747	Missense Mutation	CCT,TCT	P704S	XP_011515041.1
XM_017012865.1	3747	Missense Mutation	CCT,TCT	P745S	XP_016868354.1
XM_017012866.1	3747	Missense Mutation	CCT,TCT	P704S	XP_016868355.1
XM_017012867.1	3747	Missense Mutation	CCT,TCT	P704S	XP_016868356.1
XM_017012868.1	3747	Silent Mutation	GTC,GTT	V696V	XP_016868357.1
XM_017012869.1	3747	Missense Mutation	CCT,TCT	P686S	XP_016868358.1
XM_017012870.1	3747	Silent Mutation	GTC,GTT	V655V	XP_016868359.1
XM_017012871.1	3747	Missense Mutation	CCT,TCT	P479S	XP_016868360.1
XM_017012872.1	3747	Missense Mutation	CCT,TCT	P479S	XP_016868361.1
XM_017012873.1	3747	Missense Mutation	CCT,TCT	P479S	XP_016868362.1
XM_017012874.1	3747	Missense Mutation	CCT,TCT	P479S	XP_016868363.1
XM_017012875.1	3747	Missense Mutation	CCT,TCT	P479S	XP_016868364.1
XM_017012876.1	3747	Missense Mutation	CCT,TCT	P479S	XP_016868365.1
XM_017012877.1	3747	Silent Mutation	GTC,GTT	V430V	XP_016868366.1
XM_017012878.1	3747	Silent Mutation	GTC,GTT	V430V	XP_016868367.1

Gene

TMEM243

Gene Name

transmembrane protein 243

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005250586.3	3747	Intron			XP_005250643.1
XM_005250587.4	3747	Intron			XP_005250644.1
XM_005250588.3	3747	Intron			XP_005250645.1
XM_005250589.3	3747	Intron			XP_005250646.1
XM_017012616.1	3747	Intron			XP_016868105.1
XM_017012617.1	3747	Intron			XP_016868106.1
XM_017012618.1	3747	Intron			XP_016868107.1

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