Product Details

SNP ID

rs201254988

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:113705924 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCTCTCTGCCACACACATCATG[A/G]AAAAAAACATCCAAGTAAGACACAA

Phenotype

MIM: 604950

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PHTF1 PubMed Links

Gene Details

Gene

PHTF1

Gene Name

putative homeodomain transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323041.1	2300	Missense Mutation	TCC,TTC	S546F	NP_001309970.1
NM_001323042.1	2300	Missense Mutation	TCC,TTC	S546F	NP_001309971.1
NM_001323043.1	2300	Missense Mutation	TCC,TTC	S546F	NP_001309972.1
NM_001323044.1	2300	Missense Mutation	TCC,TTC	S504F	NP_001309973.1
NM_001323045.1	2300	Missense Mutation	TCC,TTC	S504F	NP_001309974.1
NM_001323046.1	2300	Missense Mutation	TCC,TTC	S260F	NP_001309975.1
NM_001323047.1	2300	Missense Mutation	TCC,TTC	S546F	NP_001309976.1
NM_001323048.1	2300	Missense Mutation	TCC,TTC	S546F	NP_001309977.1
NM_001323049.1	2300	Missense Mutation	TCC,TTC	S546F	NP_001309978.1
NM_001323050.1	2300	Missense Mutation	TCC,TTC	S504F	NP_001309979.1
NM_001323051.1	2300	Missense Mutation	TCC,TTC	S504F	NP_001309980.1
NM_001323052.1	2300	Missense Mutation	TCC,TTC	S546F	NP_001309981.1
NM_001323053.1	2300	Missense Mutation	TCC,TTC	S546F	NP_001309982.1
NM_006608.2	2300	Missense Mutation	TCC,TTC	S546F	NP_006599.2

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